brianpardy's vcf_data data (filename: "hu9B93D0.vcf.gz")

Variant Allele Freq Info

chr11:g.5276169G>A

ClinVar: NM_000184.2(HBG2): c.-211C>T

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.22214877A>G

ClinVar: NM_213599.2(ANO5): c.-162A>G

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.111654648T>A

ClinVar: NM_024740.2(ALG9): c.*2473A>T

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.53729491T>G

ClinVar: NM_001173467.2(SP7): c.-47-14A>C

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.23048281T>G

ClinVar: NM_144599.4(NIPA1): c.*548A>C

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.47349692T>G

ClinVar: NM_001080467.2(MYO5B): c.*3149A>C

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.47349841G>A

ClinVar: NM_001080467.2(MYO5B): c.*3000C>T

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.47349867T>C

ClinVar: NM_001080467.2(MYO5B): c.*2974A>G

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.47349881A>G

ClinVar: NM_001080467.2(MYO5B): c.*2960T>C

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.47350753T>C

ClinVar: NM_001080467.2(MYO5B): c.*2088A>G

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.47350832A>T

ClinVar: NM_001080467.2(MYO5B): c.*2009T>A

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.47350876G>A

ClinVar: NM_001080467.2(MYO5B): c.*1965C>T

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.47352639A>C

ClinVar: NM_001080467.2(MYO5B): c.*202T>G

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.47352677A>C

ClinVar: NM_001080467.2(MYO5B): c.*164T>G

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.72922851A>G

ClinVar: NM_005786.5(TSHZ1): c.-443A>G

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.72922958A>G

ClinVar: NM_005786.5(TSHZ1): c.-336A>G

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.26126680T>C

ClinVar: NM_020451.2(SELENON): c.-42T>C

Homozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.147229654A>G

ClinVar: NM_005266.6(GJA5): c.*616T>C

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.15563253C>T

ClinVar: NM_005677.3(COLQ): c.-121G>A

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.139493848T>C

ClinVar: NM_005859.4(PURA): c.82T>C (p.Ser28Pro)

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.170871052G>A

ClinVar: NM_003194.4(TBP): c.228G>A (p.Gln76=)

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.150647267A>C

ClinVar: NM_000238.3(KCNH2): c.2387T>G (p.Val796Gly)

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.10467637T>C

ClinVar: NM_178857.5(RP1L1): c.3971A>G (p.Glu1324Gly)

Homozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.115247653G>A

ClinVar: NM_002524.4(NRAS): c.*3062C>T

Heterozygous

0.000032 Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.46812830G>A

ClinVar: NM_017653.4(DYM): c.920C>T (p.Ala307Val)

Heterozygous

0.000058 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.152728958T>A

ClinVar: NM_000726.4(CACNB4): c.571A>T (p.Thr191Ser)

Heterozygous

0.000065 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.50684306G>A

ClinVar: NM_000124.3(ERCC6): c.2337C>T (p.Phe779=)

Heterozygous

0.000065 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.102483246C>T

ClinVar: NM_001376.4(DYNC1H1): c.7758C>T (p.Ala2586=)

Heterozygous

0.000097 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.128489424C>T

ClinVar: NM_001458.4(FLNC): c.4991C>T (p.Thr1664Met)

Heterozygous

0.000097 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.131925413A>G

ClinVar: NM_005732.3(RAD50): c.1336A>G (p.Lys446Glu)

Homozygous

0.000129 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.135946981T>G

ClinVar: NM_001807.4(CEL): c.2101T>G (p.Ser701Ala)

Heterozygous

0.000187 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.179554624C>T

ClinVar: NM_001256850.1(TTN): c.30812-1G>A

Heterozygous

0.000323 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.116312582G>T

ClinVar: NM_001127500.2(MET): c.-64G>T

Heterozygous

0.000356 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.37126780C>T

ClinVar: NM_006194.3(PAX9): c.-719C>T

Heterozygous

0.000452 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.81539003C>T

ClinVar: NM_000158.3(GBE1): c.*555G>A

Heterozygous

0.000453 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.50502469A>G

ClinVar: NM_015166.3(MLC1): c.1053T>C (p.Ala351=)

Heterozygous

0.000479 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.47368203A>G

ClinVar: NM_000256.3(MYBPC3): c.909-8T>C

Heterozygous

0.000516 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.28909568C>T

ClinVar: NM_173201.3(ATP2A1): c.1560C>T (p.Gly520=)

Heterozygous

0.000517 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.113457722T>C

ClinVar: NM_005592.3(MUSK): c.398T>C (p.Ile133Thr)

Heterozygous

0.000599 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.10542919G>T

ClinVar: NM_002470.3(MYH3): c.2883C>A (p.Thr961=)

Heterozygous

0.000646 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.75316043G>A

ClinVar: NM_006640.4(SEPT9): c.-366G>A

Heterozygous

0.000647 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.171764530C>T

ClinVar: NM_001017995.2(SH3PXD2B): c.*843G>A

Heterozygous

0.000904 Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.21166407G>C

ClinVar: NM_000271.4(NPC1): c.-100C>G

Heterozygous

0.000970 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.19156851C>T

ClinVar: NM_000474.3(TWIST1): c.94G>A (p.Gly32Ser)

Heterozygous

0.001021 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.202152072G>A

ClinVar: NM_001228.4(CASP8): c.*755G>A

Heterozygous

0.001033 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.21054391G>A

ClinVar: NM_019844.3(SLCO1B3): c.1855G>A (p.Val619Ile)

Heterozygous

0.001098 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.54146149T>C

ClinVar: NM_001080432.2(FTO): c.*322T>C

Heterozygous

0.001130 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.90024584C>T

ClinVar: NM_032119.3(ADGRV1): c.10260C>T (p.Phe3420=)

Heterozygous

0.001162 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.56140633G>A

ClinVar: NM_002591.3(PCK1): c.1642G>A (p.Ala548Thr)

Heterozygous

0.001260 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.4459755C>G

ClinVar: NM_182760.3(SUMF1): c.664G>C (p.Gly222Arg)

Heterozygous

0.001291 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.215796514G>A

ClinVar: NM_173076.2(ABCA12): c.*844C>T

Heterozygous

0.001292 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.82835724T>G

ClinVar: NM_004385.4(VCAN): c.6902T>G (p.Phe2301Cys)

Heterozygous

0.001296 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.25159825C>T

ClinVar: NM_018947.5(CYCS): c.*3495G>A

Heterozygous

0.001520 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.13336486G>A

ClinVar: NM_006214.3(PHYH): c.356C>T (p.Thr119Met)

Heterozygous

0.001646 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.33523448G>A

ClinVar: NM_000178.3(GSS): c.768-3C>T

Heterozygous

0.001647 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.88684222A>G

ClinVar: NM_004329.2(BMPR1A): c.*746A>G

Heterozygous

0.001683 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.88874676A>T

ClinVar: NM_030928.3(CDT1): c.1631A>T (p.Glu544Val)

Heterozygous

0.001744 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.21213632C>G

ClinVar: NM_004782.3(SNAP29): c.234C>G (p.Ser78=)

Heterozygous

0.002003 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.90320149G>A

ClinVar: NM_001039958.1(MESP2): c.561G>A (p.Gly187=)

Heterozygous

0.002121 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.47037985G>A

ClinVar: NM_015175.2(NBEAL2): c.2376G>A (p.Arg792=)

Heterozygous

0.002264 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.88923339C>T

ClinVar: NM_000512.4(GALNS): c.-54G>A

Heterozygous

0.002399 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.220430133C>T

ClinVar: NM_015311.2(OBSL1): c.2238G>A (p.Pro746=)

Heterozygous

0.002422 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.148384455T>A

ClinVar: NM_024577.3(SH3TC2): c.3686A>T (p.Asp1229Val)

Heterozygous

0.002456 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.235825349C>G

ClinVar: NM_000081.3(LYST): c.*891G>C

Heterozygous

0.002842 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.47047500G>A

ClinVar: NM_015175.2(NBEAL2): c.6866G>A (p.Arg2289Gln)

Heterozygous

0.002909 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.56087068C>T

ClinVar: NM_002206.2(ITGA7): c.2569G>A (p.Gly857Ser)

Heterozygous

0.002950 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.49426975T>C

ClinVar: NM_000255.3(MMUT): c.205A>G (p.Ile69Val)

Heterozygous

0.002971 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.225615680C>G

ClinVar: NM_002296.3(LBR): c.-39G>C

Heterozygous

0.003283 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.147207616G>A

ClinVar: NM_003122.4(SPINK1): c.163C>T (p.Pro55Ser)

Heterozygous

0.003878 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.227152814C>T

ClinVar: NM_020247.4(COQ8A): c.291C>T (p.Ser97=)

Heterozygous

0.003943 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.66543421T>C

ClinVar: NM_004614.4(TK2): c.*2450A>G

Heterozygous

0.003973 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.77435340C>A

ClinVar: NM_017662.4(TRPM6): c.1014G>T (p.Met338Ile)

Heterozygous

0.004038 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.68732788A>G

ClinVar: NM_001793.5(CDH3): c.*485A>G

Heterozygous

0.004110 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.38165269G>A

ClinVar: NM_001039141.2(TRIOBP): c.6736G>A (p.Glu2246Lys)

Heterozygous

0.004267 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.99371517C>T

ClinVar: NM_138413.3(HOGA1): c.*101C>T

Heterozygous

0.004623 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.215847813C>T

ClinVar: NM_206933.2(USH2A): c.13440G>A (p.Arg4480=)

Heterozygous

0.004714 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.227924137T>A

ClinVar: NM_000092.4(COL4A4): c.2367A>T (p.Gly789=)

Heterozygous

0.004781 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.31396651A>T

ClinVar: NM_006892.3(DNMT3B): c.*942A>T

Heterozygous

0.004812 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.211421330G>A

ClinVar: NM_001875.4(CPS1): c.-128G>A

Heterozygous

0.004985 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.12538013C>G

ClinVar: NM_025265.3(TSEN2): c.272-4C>G

Heterozygous

0.005100 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.100943155C>A

ClinVar: NM_016247.3(IMPG2): c.*2658G>T

Heterozygous

0.005392 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.75497231G>A

ClinVar: NM_001040108.1(MLH3): c.3987+15C>T

Heterozygous

0.005456 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.147475388C>T

ClinVar: NM_006846.3(SPINK5): c.802C>T (p.Arg268Cys)

Heterozygous

0.005474 Clinvar entries without associated notes: Add effect notes to GenNotes

chr13:g.41383861G>T

ClinVar: NM_014252.3(SLC25A15): c.*58G>T

Heterozygous

0.005659 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.28523707C>G

ClinVar: NM_001045.5(SLC6A4): c.*1767G>C

Heterozygous

0.005716 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.7123240T>C

ClinVar: NM_000018.3(ACADVL): c.-64T>C

Heterozygous

0.005954 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.74689078C>T

ClinVar: NM_006302.2(MOGS): c.1838G>A (p.Arg613Gln)

Heterozygous

0.005978 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.48894361A>G

ClinVar: NM_000387.5(SLC25A20): c.*782T>C

Heterozygous

0.006006 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.143822418C>T

ClinVar: NM_020427.2(SLURP1): c.*143G>A

Heterozygous

0.006674 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.225611688G>A

ClinVar: NM_002296.3(LBR): c.90C>T (p.His30=)

Heterozygous

0.006813 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.128015143G>A

ClinVar: NM_000122.1(ERCC3): c.*29C>T

Heterozygous

0.007428 Clinvar entries without associated notes: Add effect notes to GenNotes

chr21:g.35821680C>T

ClinVar: NM_000219.5(KCNE1): c.253G>A (p.Asp85Asn)

Heterozygous

0.008109 Clinvar entries without associated notes:

chr4:g.146577186G>A

ClinVar: NM_172250.2(MMAA): c.*600G>A

Heterozygous

0.008429 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.159175494C>T

ClinVar: NM_002036.3(ACKR1): c.265C>T (p.Arg89Cys)

Heterozygous

0.010695 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.30414503C>T

ClinVar: NM_033118.3(MYLK2): c.1068C>T (p.Val356=)

Heterozygous

0.010872 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.233408325C>A

ClinVar: NM_005199.4(CHRNG): c.951C>A (p.Ile317=)

Heterozygous

0.011124 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.14111176C>G

ClinVar: NM_001303.3(COX10): c.*646C>G

Heterozygous

0.011865 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.27069583A>C

ClinVar: NM_178170.2(NEK8): c.*578A>C

Heterozygous

0.014137 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.8645328C>G

ClinVar: NM_030957.3(ADAMTS10): c.*449G>C

Heterozygous

0.014180 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.57917787A>G

ClinVar: NM_001297.4(CNGB1): c.*281T>C

Heterozygous

0.014559 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.72668480C>T

ClinVar: NM_000520.5(HEXA): c.-167G>A

Heterozygous

0.014661 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.100544284C>G

ClinVar: NM_000253.3(MTTP): c.*279C>G

Heterozygous

0.015435 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.47260551C>A

ClinVar: NM_000107.2(DDB2): c.*151C>A

Heterozygous

0.016017 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.3926616G>A

ClinVar: NM_033064.4(ATCAY): c.*2026G>A

Heterozygous

0.016407 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.105838354G>A

ClinVar: NM_000494.4(COL17A1): c.53-10C>T

Heterozygous

0.016705 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.137802771A>G

ClinVar: NM_005989.3(AKR1D1): c.*1363A>G

Heterozygous

0.017453 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.51062367C>A

ClinVar: NM_000487.5(ARSA): c.*1206G>T

Heterozygous

0.021000 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.143957129G>T

ClinVar: NM_000497.3(CYP11B1): c.1120C>A (p.Arg374=)

Homozygous

0.022151 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.42931861G>A

ClinVar: NM_000287.3(PEX6): c.*212C>T

Heterozygous

0.022918 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.22301590G>A

ClinVar: NM_213599.2(ANO5): c.*279G>A

Heterozygous

0.023757 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.18303533G>A

ClinVar: NM_181507.1(HPS5): c.3293C>T (p.Thr1098Ile)

Heterozygous

0.023903 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.213072114C>G

ClinVar: NM_014053.3(FLVCR1): c.*3482C>G

Heterozygous

0.025058 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.17983059C>T

ClinVar: NM_000453.2(SLC5A5): c.-70C>T

Heterozygous

0.028580 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.56092668C>T

ClinVar: NM_002206.2(ITGA7): c.824G>A (p.Arg275His)

Heterozygous

0.031382 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.84211465T>C

ClinVar: NM_178452.5(DNAAF1): c.*18T>C

Heterozygous

0.031450 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.33385241C>A

ClinVar: NM_001170.1(AQP7): c.791G>T (p.Gly264Val)

Heterozygous

0.033211 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.107475512C>T

ClinVar: NM_020381.3(PDSS2): c.*311G>A

Heterozygous

0.033350 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.90320161G>A

ClinVar: NM_001039958.2(MESP2): c.573G>A (p.Gly191=)

Heterozygous

0.033483 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.16850399G>A

ClinVar: NM_019851.2(FGF20): c.*182C>T

Heterozygous

0.034150 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.396321C>T

ClinVar: NM_002460.3(IRF4): c.492+386C>T

Heterozygous

0.036740 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.156848918C>T

ClinVar: NM_002529.3(NTRK1): c.1810C>T (p.His604Tyr)

Heterozygous

0.036946 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.156848946G>T

ClinVar: NM_001007792.1(NTRK1): c.1730G>T (p.Gly577Val)

Heterozygous

0.037055 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.166150549G>A

ClinVar: NM_021007.2(SCN2A): c.-148G>A

Heterozygous

0.046242 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.51481548G>A

ClinVar: NM_138694.3(PKHD1): c.*2331C>T

Homozygous

0.047944 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.161518333A>T

ClinVar: NM_001127593.1(FCGR3A): c.197T>A (p.Leu66His)

Heterozygous

0.047996 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.54531242G>A

ClinVar: NM_000242.2(MBL2): c.154C>T (p.Arg52Cys)

Heterozygous

0.048656 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.227660544C>T

ClinVar: NM_005544.2(IRS1): c.2911G>A (p.Gly971Arg)

Heterozygous

0.059897 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.26310506C>T

ClinVar: NM_017433.4(MYO3A): c.660C>T (p.Ala220=)

Heterozygous

0.060165 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.10328453T>A

ClinVar: NM_001134944.1(GHRL): c.233A>T (p.Gln78Leu)

Heterozygous

0.061300 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.65249066C>T

ClinVar: NM_001355436.2(SPTB): c.4208G>A (p.Arg1403Gln)

Heterozygous

0.066046 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.26310470C>T

ClinVar: NM_017433.4(MYO3A): c.624C>T (p.Asp208=)

Heterozygous

0.071258 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91509734A>G

ClinVar: NM_003981.3(PRC1): c.*627T>C

Heterozygous

0.075691 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.169810796C>T

ClinVar: NM_004137.3(KCNMB1): c.193G>A (p.Glu65Lys)

Heterozygous

0.080249 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.89328335T>C

ClinVar: NC_000012.12: g.88934558T>C

Homozygous

0.082788 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.88684422A>G

ClinVar: NM_004329.2(BMPR1A): c.*946A>G

Heterozygous

0.086898 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11612842G>A

ClinVar: NM_002052.4(GATA4): c.997+200G>A

Heterozygous

0.090381 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.40688695T>C

ClinVar: NM_198578.3(LRRK2): c.2857T>C (p.Leu953=)

Heterozygous

0.090720 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31105554A>C

ClinVar: NM_024006.5(VKORC1): c.173+324T>G

Heterozygous

0.091450 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91517479G>A

ClinVar: NM_003981.3(PRC1): c.1351-3C>T

Heterozygous

0.095184 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.115236057G>A

ClinVar: NM_000036.2(AMPD1): c.133C>T (p.Gln45Ter)

Heterozygous

0.095556
Disease: Adenosine Deaminase Deficiency
Inheritance: recessive
Significance: causal
Evidence: reported
Clinvar records: Uncertain significance: Muscle AMP deaminase deficiency (MMDD)
Conflicting interpretations of pathogenicity, other: not provided
Notes:

Reported to cause Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.

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chr7:g.128589000T>C

ClinVar: NM_001098629.2(IRF5): c.*128T>C

Heterozygous

0.095748 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.202149589G>C

ClinVar: NM_001228.4(CASP8): c.904G>C (p.Asp302His)

Heterozygous

0.097335 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91514760C>T

ClinVar: NM_003981.3(PRC1): c.1462-1016G>A

Heterozygous

0.104002 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.73942678C>T

ClinVar: NM_032217.4(ANKRD17): c.7731G>A (p.Thr2577=)

Heterozygous

0.118054 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.69824024C>T

ClinVar: NC_000012.12: g.69430244C>T

Heterozygous

0.120968
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Notes:

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Clinvar entries without associated notes:

chr2:g.63131731G>A

ClinVar: NM_001142615.2(EHBP1): c.1185+30064G>A

Heterozygous

0.122239
Disease: Prostate cancer
Inheritance: additive
Significance: risk factor
Evidence: reported
Clinvar records: Pathogenic: Prostate cancer, hereditary, 12 (HPC12)
Notes:

A genome-wide association study by Gudmundsson, et al. 2008 found this variant associated with increased prostate cancer risk in their population (potentially representing an increased lifetime risk of 1 to 2%). Other publications have also examined this variant's association with prostate cancer. A meta-analysis that combined these data by Ao et al. 2015 concluded there was strong evidence for an increased risk association. Most studies did not segregate the effect in heterozygous vs homozygous individuals, but Gudmundsson et al.'s report seemed to indicate the effect is additive.

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chr17:g.4836381C>T

ClinVar: NM_000173.6(GP1BA): c.482C>T (p.Thr161Met)

Heterozygous

0.122947 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11606364G>C

ClinVar: NM_002052.4(GATA4): c.617-64G>C

Heterozygous

0.123716 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.231075206G>A

ClinVar: NM_080424.2(SP110): c.752-483C>T

Heterozygous

0.126389 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.40987528G>C

ClinVar: NM_002875.4(RAD51): c.-98G>C

Heterozygous

0.127158 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.10313448C>G

ClinVar: NM_002543.3(OLR1): c.501G>C (p.Lys167Asn)

Heterozygous

0.128022 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.241813453G>A

ClinVar: NM_000030.2(AGXT): c.654G>A (p.Ser218=)

Heterozygous

0.130162 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.45360730T>C

ClinVar: NM_000212.2(ITGB3): c.176T>C (p.Leu59Pro)

Heterozygous

0.131786
Disease: Posttransfusion purpura (PTP)
Inheritance: recessive
Significance: risk factor
Evidence: well-established
Clinvar records: Benign: PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM
:
Notes:

This allele is Pl(A2) in the platelet-specific alloantigen system Pl(A). (The reference genome allele is Pl(A1).) Post-transfusion purpura can occur in women who have been pregnant in the past. It seems to be associated with women who don't carry the PI(A1) variant (e.g. homozygous for this variant), and have developed an immune reaction to Pl(A1) – presumably due to exposure to a fetus carrying a copy of Pl(A1).

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Disease: Myocardial infarction
Inheritance: other/unknown
Significance: risk factor
Evidence: reported
Clinvar records: Benign: PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM
risk factor: Myocardial infarction
Notes:

Various groups reported that this variant, PIA2, is associated with increased risk of myocardial infarction (heart attack), including Grove et al, 2004 and Zotz et al, 2005. However these reports are all more than a decade old. The lack of replication in follow-up studies may indicate the variant has little or no affect on MI.

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Disease: Hip fracture
Inheritance: recessive
Significance: risk factor
Evidence: reported
Clinvar records: Benign: PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM
:
Notes:

Tofteng et al. (2007) reported finding an increased risk of hip fractures associated with individuals homozygous for this variant.

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Disease: Neonatal alloimmune thrombocytopenia
Inheritance: recessive
Significance: risk factor
Evidence: well-established
Clinvar records: Benign: PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM
:
Notes:

This allele is "Pl(A2)" or "HPA-1b" in the platelet-specific alloantigen system. The reference genome allele is "Pl(A1)" or "HPA-1a".

Fetuses in mothers who do not have the PI(A1) variant (e.g. homozygous for the this variant) have a risk of neonatal alloimmune thrombocytopenia (also known as NAIT). NAIT can occur when the fetus carries Pl(A1), and the mother does not. An immune response by the mother can cause decreased platelet count in the fetus which can, in turn, cause complications like bleeding, bruising, and intracranial hemorrhage. Peterson et al, 2013 reviews this phenomenon in more detail.

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Clinvar entries without associated notes:

chr12:g.21331549T>C

ClinVar: NM_006446.4(SLCO1B1): c.521T>C (p.Val174Ala)

Heterozygous

0.135440 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.55511806C>T

ClinVar: NM_004530.5(MMP2): c.-1586C>T

Heterozygous

0.136600 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.231408091A>G

ClinVar: NM_014236.3(GNPAT): c.1556A>G (p.Asp519Gly)

Heterozygous

0.144735 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11614769C>T

ClinVar: NM_002052.4(GATA4): c.1146+177C>T

Heterozygous

0.148594 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11616836G>A

ClinVar: NM_002052.4(GATA4): c.*852G>A

Heterozygous

0.151942 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.179528038A>C

ClinVar: NM_001267550.2(TTN): c.36655T>G (p.Leu12219Val)

Heterozygous

0.165329 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.96541616G>A

ClinVar: NM_000769.1(CYP2C19): c.681G>A (p.Pro227=)

Heterozygous

0.167273 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.2906707G>T

ClinVar: NM_176801.2(ADD1): c.1378G>T (p.Gly460Trp)

Heterozygous

0.170033 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.124456742G>C

ClinVar: NM_000373.3(UMPS): c.638G>C (p.Gly213Ala)

Heterozygous

0.170189 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.96405502G>A

ClinVar: NC_000010.11: g.94645745G>A

Heterozygous

0.190039 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.62421622A>G

ClinVar: NM_025224.3(ZBTB46): c.489T>C (p.Ala163=)

Heterozygous

0.190983 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.3564716T>G

ClinVar: NM_004937.2(CTNS): c.*1053T>G

Heterozygous

0.193877 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.23618427C>T

ClinVar: NM_000099.3(CST3): c.73G>A (p.Ala25Thr)

Heterozygous

0.205317
Disease: Exudative age-related macular degeneration
Inheritance: recessive
Significance: risk factor
Evidence: reported
Clinvar records: Pathogenic: Age-related macular degeneration 11 (ARMD11)
Notes:

Reported to be associated with an increased risk of exudative age-related macular degeneration by Butler, et al. 2015 and (Zurdel, et al. 2002)[http://www.ncbi.nlm.nih.gov/pubmed/11815350/). Butler et al. report this effect was only found homozygous individuals, not heterozygous carriers (i.e. in a recessive manner).

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Disease: Alzheimer's disease
Inheritance: recessive
Significance: risk factor
Evidence: reported
Notes:

Hua et al., 2014 report this has been associated with increased risk of Alzheimer's disease (AD) by a couple different studies. Butler et al., 2015 reported the effect seems to be recessive, only finding homozygous individuals had increased AD risk.

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chr12:g.21382619T>C

ClinVar: NM_006446.4(SLCO1B1): c.1865+4846T>C

Heterozygous

0.211565 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.12296255G>T

ClinVar: NM_001955.4(EDN1): c.594G>T (p.Lys198Asn)

Heterozygous

0.213417 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.88911696C>A

ClinVar: NM_000372.4(TYR): c.575C>A (p.Ser192Tyr)

Heterozygous

0.215737 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.74219582G>A

ClinVar: NM_005576.3(LOXL1): c.458G>A (p.Gly153Asp)

Heterozygous

0.217884 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.169492101C>T

ClinVar: NM_018657.4(MYNN): c.18C>T (p.His6=)

Heterozygous

0.220305 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.161009523G>A

ClinVar: NM_007122.4(USF1): c.*187C>T

Homozygous

0.224730 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.161010762C>T

ClinVar: NM_007122.4(USF1): c.561-100G>A

Homozygous

0.225575 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.20365654A>G

ClinVar: NM_003361.3(UMOD): c.-1746T>C

Heterozygous

0.226079 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.21790040G>T

ClinVar: NM_020366.3(RPGRIP1): c.1639G>T (p.Ala547Ser)

Heterozygous

0.226643 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.135426573A>G

ClinVar: NC_000006.12: g.135105435A>G

Heterozygous

0.227878
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: Likely pathogenic: Fetal hemoglobin quantitative trait locus 2 (HBFQTL2)
Notes:

View/edit on GenNotes

chr16:g.53800954T>C

ClinVar: NM_001080432.2(FTO): c.46-43098T>C

Heterozygous

0.228600 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.179220638A>C

ClinVar: NM_145867.1(LTC4S): c.-444A>C

Heterozygous

0.231208 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.78882925G>A

ClinVar: NM_000745.3(CHRNA5): c.1192G>A (p.Asp398Asn)

Homozygous

0.237929 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.187004074C>T

ClinVar: NM_003265.2(TLR3): c.1234C>T (p.Leu412Phe)

Homozygous

0.238243 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.33111277C>A

ClinVar: NM_001497.3(B4GALT1): c.*2175G>T

Heterozygous

0.240769 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.114808902G>T

ClinVar: NM_030756.4(TCF7L2): c.483+9017G>T

Heterozygous

0.241315 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.7885184C>G

ClinVar: NM_017545.2(HAO1): c.721+1617G>C

Heterozygous

0.241472 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.142458526A>G

ClinVar: NM_002769.4(PRSS1): c.161A>G (p.Asn54Ser)

Heterozygous

0.242607 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.114758349C>T

ClinVar: NM_030756.4(TCF7L2): c.382-41435C>T

Heterozygous

0.254192 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.78894339G>A

ClinVar: NM_001166694.1(CHRNA3): c.645C>T (p.Tyr215=)

Homozygous

0.255432 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.56525569G>A

ClinVar: NC_000014.9: g.56058851G>A

Heterozygous

0.258504 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.113270828G>A

ClinVar: NM_178510.1(ANKK1): c.2137G>A (p.Glu713Lys)

Heterozygous

0.258592 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.11854476T>G

ClinVar: NM_005957.4(MTHFR): c.1286A>C (p.Glu429Ala)

Heterozygous

0.258962
Trait: MTHFR deficiency risk for elevated homocysteine levels
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: Benign: MTHFR deficiency, thermolabile type
Notes:

Treatment Outcome in support of cause /effect relationship : (Prior to any supplementation) my blood test showed a homocysteine level at 10 (reference range 0 to 15 =normal). So it was still within normal range, however, choosing to attempt to reduce this further, I began to supplement with methylfolate and reduced glutathione sublingual spray (once per day) and successfully significantly lowered my homocysteine level (current range with supplementation has been lowered to between 0 and 2).

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Clinvar entries without associated notes:

chr19:g.41512841G>T

ClinVar: NM_000767.5(CYP2B6): c.516G>T (p.Gln172His)

Heterozygous

0.262184 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.142458451A>T

ClinVar: NM_002769.4(PRSS1): c.86A>T (p.Asn29Ile)

Heterozygous

0.267577 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.41515263A>G

ClinVar: NM_000767.5(CYP2B6): c.785A>G (p.Lys262Arg)

Homozygous

0.269487
Trait: Reduced efavirenz metabolism
Inheritance: additive
Significance: causal
Evidence: reported
Clinvar records: Benign: Efavirenz response
Notes:

Reported by Hass et al, 2004 as associated with reduced metabolism of the drug efavirenz (used to treat HIV), one of several drugs known to be metabolized by this gene's protein product.

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Clinvar entries without associated notes:

chr18:g.55247454G>A

ClinVar: NM_001012515.3(FECH): c.68-23C>T

Heterozygous

0.271497 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.102751076G>A

ClinVar: NM_017935.4(BANK1): c.182G>A (p.Arg61His)

Heterozygous

0.271553 Clinvar entries without associated notes: Add effect notes to GenNotes

chr21:g.45978592T>C

ClinVar: NM_198696.2(KRTAP10-3): c.7A>G (p.Thr3Ala)

Heterozygous

0.271974 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.139884509C>T

ClinVar: NM_152888.2(COL22A1): c.658+5484G>A

Heterozygous

0.273939 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.46870761C>A

ClinVar: NM_001441.2(FAAH): c.385C>A (p.Pro129Thr)

Heterozygous

0.275773 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.68855363G>A

ClinVar: NM_139075.3(TPCN2): c.2201G>A (p.Gly734Glu)

Heterozygous

0.281682 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.32579788A>G

ClinVar: NG_012123.1: g.2493A>G

Heterozygous

0.281927 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.53712727C>T

ClinVar: NM_004631.4(LRP8): c.2855G>A (p.Arg952Gln)

Heterozygous

0.286167 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.74219546G>T

ClinVar: NM_005576.3(LOXL1): c.422G>T (p.Arg141Leu)

Heterozygous

0.288985 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.104165753G>A

ClinVar: NM_001100119.1(XRCC3): c.722C>T (p.Thr241Met)

Homozygous

0.290983 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.117188736C>A

ClinVar: NM_000492.3(CFTR): c.1251C>A (p.Asn417Lys)

Heterozygous

0.292714 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.104897985T>C

ClinVar: NM_012229.4(NT5C2): c.175+1178A>G

Heterozygous

0.294160 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.182554557C>T

ClinVar: NM_021133.3(RNASEL): c.1385G>A (p.Arg462Gln)

Homozygous

0.295132 Clinvar entries without associated notes: Add effect notes to GenNotes

chr13:g.110435231C>T

ClinVar: NM_003749.2(IRS2): c.3170G>A (p.Gly1057Asp)

Heterozygous

0.295455 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.13007458C>T

ClinVar: NM_000159.3(GCDH): c.852+223C>T

Heterozygous

0.298031 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.50747539G>C

ClinVar: NM_000124.3(ERCC6): c.-546C>G

Homozygous

0.299346 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.154426970A>C

ClinVar: NM_000565.3(IL6R): c.1073A>C (p.Asp358Ala)

Heterozygous

0.304372 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.45673029T>C

ClinVar: NM_001321015.1(GATM): c.-394-272A>G

Heterozygous

0.316521 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.14993439C>T

ClinVar: NM_021071.3(ART4): c.793G>A (p.Asp265Asn)

Heterozygous

0.318332 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11616410C>T

ClinVar: NM_002052.4(GATA4): c.*426C>T

Homozygous

0.318612 Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.55816791G>A

ClinVar: NM_001144968.1(NEDD4L): c.24G>A (p.Gln8=)

Heterozygous

0.322414 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.161514542A>C

ClinVar: NM_001127593.1(FCGR3A): c.526T>G (p.Phe176Val)

Heterozygous

0.324299 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.5485367A>T

ClinVar: NM_001033053.2(NLRP1): c.464T>A (p.Leu155His)

Homozygous

0.325426 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.92773663G>T

ClinVar: NC_000014.9: g.92307319G>T

Heterozygous

0.332241
Trait: Dark blonde hair as a child/ med. brown as an adult - & - blue eyes with yellow-green central ring.
Inheritance: other/unknown
Significance: causal
Evidence: well-established
Clinvar records: association: Skin/hair/eye pigmentation, variation in, 6 (SHEP6)
Notes:

(user verified trait) Dark blonde hair as a child/ med. brown as an adult - & - blue eyes with a yellow-green central ring.

Another user has verified this trait. 11/22/2018

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chr4:g.100260789T>C

ClinVar: NM_000669.4(ADH1C): c.1048A>G (p.Ile350Val)

Homozygous

0.335718 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.100263965C>T

ClinVar: NM_000669.4(ADH1C): c.815G>A (p.Arg272Gln)

Homozygous

0.336134 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.151936677G>A

ClinVar: NM_025059.3(CCDC170): c.1810G>A (p.Val604Ile)

Heterozygous

0.341974 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.610093C>T

ClinVar: NR_103444.1(LOC100996325): n.366+1469G>A

Heterozygous

0.342600 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.103310787G>A

ClinVar: NM_000277.2(PAH): c.60+62C>T

Heterozygous

0.343271 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.57005479C>A

ClinVar: NM_000078.2(CETP): c.658+186C>A

Homozygous

0.346064 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.19819439A>G

ClinVar: NM_000237.3(LPL): c.1323-187A>G

Heterozygous

0.349400 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.208494234T>C

ClinVar: NC_000002.12: g.207629510T>C

Heterozygous

0.353666 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.67352689A>G

ClinVar: NM_000852.3(GSTP1): c.313A>G (p.Ile105Val)

Heterozygous

0.353742 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31107689C>T

ClinVar: NM_024006.4(VKORC1): c.-1639G>A

Heterozygous

0.355600 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.169635010G>A

ClinVar: NM_003247.3(THBS2): c.1478-8C>T

Homozygous

0.355600 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31104878G>A

ClinVar: NM_024006.5(VKORC1): c.174-136C>T

Heterozygous

0.355800 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.234672639G>T

ClinVar: NM_000463.2(UGT1A1): c.864+2842G>T

Homozygous

0.359257 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.6440009T>C

ClinVar: NM_001065.3(TNFRSF1A): c.625+10A>G

Homozygous

0.361307 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.234668570C>T

ClinVar: NM_000463.2(UGT1A1): c.-364C>T

Homozygous

0.364805 Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.47350683C>T

ClinVar: NM_001080467.2(MYO5B): c.*2158G>A

Heterozygous

0.370222 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.38650628T>G

ClinVar: NM_006708.2(GLO1): c.332A>C (p.Glu111Ala)

Heterozygous

0.374142 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.142460394T>C

ClinVar: NM_002769.4(PRSS1): c.567T>C (p.Leu189=)

Heterozygous

0.374252 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31104509C>G

ClinVar: NM_024006.5(VKORC1): c.283+124G>C

Heterozygous

0.375822 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.185511687G>T

ClinVar: NM_006548.5(IGF2BP2): c.239+29254C>A

Heterozygous

0.376306 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.39738787C>T

ClinVar: NM_001276254.2(IFNL4): c.151-152G>A

Heterozygous

0.377509 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.20679709A>G

ClinVar: NM_017774.3(CDKAL1): c.371+30101A>G

Heterozygous

0.382271 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.18257854T>C

ClinVar: NM_000015.2(NAT2): c.341T>C (p.Ile114Thr)

Heterozygous

0.382689 Clinvar entries without associated notes: Add effect notes to GenNotes

chr21:g.37518706G>A

ClinVar: NM_001236.3(CBR3): c.730G>A (p.Val244Met)

Heterozygous

0.383569 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.30726777A>T

ClinVar: NM_001202481.1(CRHR2): c.-166-546T>A

Heterozygous

0.383621 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.198776931C>A

ClinVar: NC_000001.11: g.198807802C>A

Homozygous

0.385356 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11615695A>G

ClinVar: NM_002052.4(GATA4): c.1147-107A>G

Homozygous

0.386384 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.46760756G>A

ClinVar: NM_000506.4(F2): c.1726-59G>A

Homozygous

0.387293 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.46305733T>C

ClinVar: NM_000807.3(GABRA2): c.704-104A>G

Heterozygous

0.387371 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.46339070T>A

ClinVar: NM_000807.3(GABRA2): c.188-4371A>T

Heterozygous

0.391430 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.151948366G>A

ClinVar: NC_000006.12: g.151627231G>A

Heterozygous

0.392126
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: Likely pathogenic: Estrogen resistance (ESTRR)
Notes:

View/edit on GenNotes

chr11:g.69462910G>A

ClinVar: NM_053056.2(CCND1): c.723G>A (p.Pro241=)

Homozygous

0.396611 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.201079235C>T

ClinVar: NM_000069.2(CACNA1S): c.258+57G>A

Heterozygous

0.403800 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.20661034A>C

ClinVar: NM_017774.3(CDKAL1): c.371+11426A>C

Heterozygous

0.405400 Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.47349739G>T

ClinVar: NM_001080467.2(MYO5B): c.*3102C>A

Heterozygous

0.405527 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.94937446T>C

ClinVar: NM_000446.6(PON1): c.575A>G (p.Gln192Arg)

Heterozygous

0.408867 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.7106289T>C

ClinVar: NC_000020.11: g.7125642T>C

Heterozygous

0.409479 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.160113872A>G

ClinVar: NM_001024465.2(SOD2): c.47T>C (p.Val16Ala)

Heterozygous

0.410700
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: risk factor: Microvascular complications of diabetes 6 (MVCD6)
Notes:

View/edit on GenNotes
Clinvar entries without associated notes:

chr2:g.136608646G>A

ClinVar: NM_002299.2(LCT): c.-13907C>T

Homozygous

0.411179
Trait: Lactase persistence
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: association: Lactase persistence
Notes:

Reporting supporting evidence - adult lactase production is observed in all 3 family members with this variant

View/edit on GenNotes

chr18:g.47349768A>C

ClinVar: NM_001080467.2(MYO5B): c.*3073T>G

Heterozygous

0.411494 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.136616754C>T

ClinVar: NM_005915.5(MCM6): c.1362+117G>A

Homozygous

0.414926
Trait: Lactase persistence
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: association: Lactase persistence
Notes:

Confirmed: lactose tolerant as an adult ( still able to digest milk completely without complications)

View/edit on GenNotes

chr17:g.19812541T>C

ClinVar: NM_007202.3(AKAP10): c.1936A>G (p.Ile646Val)

Heterozygous

0.416526 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.42931666A>C

ClinVar: NM_000287.3(PEX6): c.*407T>G

Heterozygous

0.418558 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31102321C>T

ClinVar: NM_024006.5(VKORC1): c.*134G>A

Heterozygous

0.419700 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.46329723T>A

ClinVar: NM_000807.3(GABRA2): c.255+4909A>T

Heterozygous

0.421237 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.47592459A>G

ClinVar: NM_012120.2(CD2AP): c.*496A>G

Heterozygous

0.423291 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.18325146C>T

ClinVar: NM_181507.1(HPS5): c.896+1823G>A

Homozygous

0.428798 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.45620985C>T

ClinVar: NC_000015.10: g.45328787C>T

Heterozygous

0.429155 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.6954875C>T

ClinVar: NM_002075.3(GNB3): c.825C>T (p.Ser275=)

Heterozygous

0.430953 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.141673345C>G

ClinVar: NM_176817.4(TAS2R38): c.145G>C (p.Ala49Pro)

Homozygous

0.433826 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.167845791C>T

ClinVar: NM_015238.2(WWC1): c.1185-3222C>T

Heterozygous

0.441055 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.237996664G>C

ClinVar: NM_001035.2(RYR2): c.*717G>C

Heterozygous

0.446690 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.19951271G>A

ClinVar: NM_000754.3(COMT): c.472G>A (p.Val158Met)

Heterozygous

0.447522 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.120663363T>C

ClinVar: NM_014619.4(GRIK4): c.83-10039T>C

Homozygous

0.455166 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.27356203A>G

ClinVar: NM_000418.3(IL4R): c.223A>G (p.Ile75Val)

Heterozygous

0.456500 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.141672604T>C

ClinVar: NM_176817.4(TAS2R38): c.886A>G (p.Ile296Val)

Homozygous

0.460580 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.7870973A>G

ClinVar: NM_002454.2(MTRR): c.66A>G (p.Ile22Met)

Homozygous

0.460708 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.57870155A>C

ClinVar: NM_032496.3(ARHGAP9): c.1108T>G (p.Ser370Ala)

Heterozygous

0.461753 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91509592T>C

ClinVar: NM_003981.3(PRC1): c.*769A>G

Homozygous

0.462273 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.128578301G>T

ClinVar: NM_001098629.2(IRF5): c.-12+198G>T

Homozygous

0.470331 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.148206440G>A

ClinVar: NM_000024.5(ADRB2): c.46A= (p.Arg16=)

Heterozygous

0.475600 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.55222475T>C

ClinVar: NM_015589.5(SAMD4A): c.1176+4220T>C

Heterozygous

0.477745 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.186336027T>G

ClinVar: NM_001622.3(AHSG): c.574-298T>G

Heterozygous

0.481743 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.108283161C>A

ClinVar: NM_152587.3(C11orf65): c.175-5285G>T

Heterozygous

0.482490 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.34818113A>T

ClinVar: NM_207173.1(NPSR1): c.320A>T (p.Asn107Ile)

Homozygous

0.486658 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.198796120C>T

ClinVar: NR_040073.1(MIR181A1HG): n.364-18748G>A

Homozygous

0.486863 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.63258565C>G

ClinVar: NM_000524.3(HTR1A): c.-1019G>C

Heterozygous

0.487053 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.24825511C>T

ClinVar: NM_000675.5(ADORA2A): c.-275+1797C>T

Heterozygous

0.487109 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.166909544C>T

ClinVar: NM_006920.4(SCN1A): c.603-91G>A

Homozygous

0.492283 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.113348870G>A

ClinVar: NM_016816.3(OAS1): c.484G>A (p.Gly162Ser)

Heterozygous

0.503991 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.103418158A>G

ClinVar: NC_000011.10: g.103547430A>G

Heterozygous

0.504150 Clinvar entries without associated notes: Add effect notes to GenNotes

chr21:g.46957794T>C

ClinVar: NM_194255.2(SLC19A1): c.80A>G (p.His27Arg)

Homozygous

0.511293 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.1286516C>A

ClinVar: NM_198253.2(TERT): c.1574-3777G>T

Heterozygous

0.526184 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.114807047G>C

ClinVar: NM_030756.4(TCF7L2): c.483+7162G>C

Heterozygous

0.528133 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.21329738A>G

ClinVar: NM_006446.4(SLCO1B1): c.388A>G (p.Asn130Asp)

Heterozygous

0.530727 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91517780G>C

ClinVar: NM_003981.3(PRC1): c.1350+35C>G

Heterozygous

0.530817 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.184071063G>C

ClinVar: NM_004366.5(CLCN2): c.2003C>G (p.Thr668Ser)

Heterozygous

0.530966 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.39325078A>G

ClinVar: NM_145027.5(KIF6): c.2155T>C (p.Trp719Arg)

Heterozygous

0.539700 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.18290859C>T

ClinVar: NM_000331.5(SAA1): c.209C>T (p.Ala70Val)

Heterozygous

0.546372 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.10222195A>G

ClinVar: NM_002566.4(P2RY11): c.-203A>G

Heterozygous

0.553677 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.28365618A>G

ClinVar: NM_004667.5(HERC2): c.13272+874T>C

Homozygous

0.558074 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91511260A>G

ClinVar: NM_003981.3(PRC1): c.1792-828T>C

Homozygous

0.559286 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.147574390A>G

ClinVar: NM_014141.5(CNTNAP2): c.2099-26267A>G

Homozygous

0.562391 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.160807715T>C

ClinVar: NM_016382.3(CD244): c.834+526A>G

Heterozygous

0.563322 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.113594387G>A

ClinVar: NM_000576.2(IL1B): c.-118C>T

Homozygous

0.563876 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.149721690G>A

ClinVar: NM_001002255.1(SUMO4): c.163G>A (p.Val55Met)

Heterozygous

0.573775
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: risk factor: Diabetes mellitus, insulin-dependent, 5 (IDDM5)
Notes:

View/edit on GenNotes

chr16:g.31110981G>A

ClinVar: NG_011564.1: g.296C>T

Heterozygous

0.574455 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.128589427G>A

ClinVar: NM_001098629.2(IRF5): c.*555G>A

Homozygous

0.581172 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.10227010A>G

ClinVar: NM_003755.4(EIF3G): c.596-260T>C

Heterozygous

0.581345 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.201081943C>T

ClinVar: NM_000069.2(CACNA1S): c.-476G>A

Heterozygous

0.588900 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.70641860T>C

ClinVar: NM_001130161.2(STOX1): c.457T>C (p.Tyr153His)

Homozygous

0.590076 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.133877623A>G

ClinVar: NM_003235.4(TG): c.-1623A>G

Homozygous

0.590108 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.10218030C>T

ClinVar: NM_020230.6(PPAN): c.190-151C>T

Heterozygous

0.591006 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.65494212A>G

ClinVar: NM_003613.3(CILP): c.1184T>C (p.Ile395Thr)

Homozygous

0.592412 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.10226052G>A

ClinVar: NM_002566.4(P2RY11): c.*638G>A

Heterozygous

0.593035 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.187158034G>A

ClinVar: NM_000892.4(KLKB1): c.428G>A (p.Ser143Asn)

Heterozygous

0.600622 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.74222202T>C

ClinVar: NM_005576.3(LOXL1): c.1102+1976T>C

Homozygous

0.602041 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.16169566C>T

ClinVar: NM_004996.3(ABCC1): c.1913-617C>T

Homozygous

0.609342 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.17298125C>G

ClinVar: NM_005013.2(NUCB2): c.-406C>G

Heterozygous

0.609560 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.154072020T>C

ClinVar: NM_001039350.2(DPP6): c.52-71279T>C

Heterozygous

0.612054 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.100317298C>A

ClinVar: NM_000799.3(EPO): c.-1306C>A

Homozygous

0.613932 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.7579472G>C

ClinVar: NM_000546.5(TP53): c.215C>G (p.Pro72Arg)

Heterozygous

0.619355 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.84192168G>C

ClinVar: NM_015697.8(COQ2): c.779-1022C>G

Heterozygous

0.628732 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.6295693C>G

ClinVar: NM_006005.3(WFS1): c.713-1075C>G

Heterozygous

0.630025 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.69389217C>G

ClinVar: NM_052958.3(C8orf34): c.736+8162C>G

Heterozygous

0.637085 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.60720246C>T

ClinVar: NM_018014.3(BCL11A): c.386-24278G>A

Homozygous

0.639634 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31103796A>G

ClinVar: NM_024006.5(VKORC1): c.283+837T>C

Heterozygous

0.642200 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.28530182C>T

ClinVar: NM_004667.5(HERC2): c.323-4749G>A

Homozygous

0.643007 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.48272895A>G

ClinVar: NM_001017535.1(VDR): c.2T>C (p.Met1Thr)

Heterozygous

0.648259 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.28513364T>C

ClinVar: NM_004667.5(HERC2): c.1598+247A>G

Homozygous

0.648679 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.14187449G>T

ClinVar: NM_004628.4(XPC): c.2815C>A (p.Gln939Lys)

Homozygous

0.655551 Clinvar entries without associated notes: Add effect notes to GenNotes

chr13:g.47411985A>G

ClinVar: NM_000621.4(HTR2A): c.614-2211T>C

Homozygous

0.655894 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.33682737G>T

ClinVar: NM_170672.2(RASGRP3): c.-261+9727G>T

Heterozygous

0.662115 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.51502844A>C

ClinVar: NM_031226.2(CYP19A1): c.*161T>G

Homozygous

0.664300 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.41515702T>C

ClinVar: NM_000767.5(CYP2B6): c.823-197T>C

Heterozygous

0.665824 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.27730940T>C

ClinVar: NM_001486.3(GCKR): c.1337T>C (p.Leu446Pro)

Homozygous

0.675811 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.206946407T>G

ClinVar: NM_000572.3(IL10): c.-627A>C

Homozygous

0.685120 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.43738350C>G

ClinVar: NM_001025366.2(VEGFA): c.-94C>G

Homozygous

0.697659
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: risk factor: Microvascular complications of diabetes 1 (MVCD1)
Notes:

View/edit on GenNotes

chr2:g.109527087G>A

ClinVar: NM_022336.3(EDAR): c.731-99C>T

Heterozygous

0.702909 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.17409572T>C

ClinVar: NM_000525.3(KCNJ11): c.67A>G (p.Lys23Glu)

Homozygous

0.708101 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.198867678G>T

ClinVar: NR_040073.1(MIR181A1HG): n.363+1862C>A

Homozygous

0.719888 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.44055726T>C

ClinVar: NM_006297.2(XRCC1): c.1196A>G (p.Gln399Arg)

Homozygous

0.719960 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.198868084G>A

ClinVar: NR_040073.1(MIR181A1HG): n.363+1456C>T

Homozygous

0.720161 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.155254145T>C

ClinVar: NM_001427.3(EN2): c.686-921T>C

Homozygous

0.720241 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.155253993G>A

ClinVar: NM_001427.3(EN2): c.686-1073G>A

Homozygous

0.720553 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.109522720G>A

ClinVar: NM_022336.3(EDAR): c.1024+44C>T

Heterozygous

0.727551 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.156213257G>A

ClinVar: NM_199173.5(BGLAP): c.*304G>A

Heterozygous

0.729014 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.198869514T>C

ClinVar: NR_040073.1(MIR181A1HG): n.363+26A>G

Homozygous

0.738485 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.131995964A>G

ClinVar: NM_002188.2(IL13): c.431A>G (p.Gln144Arg)

Heterozygous

0.748851 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.18900750G>A

ClinVar: NM_001195226.1(PRODH): c.1417C>T (p.Leu473=)

Homozygous

0.752436 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.78956432T>C

ClinVar: NM_000959.3(PTGFR): c.-562T>C

Heterozygous

0.764567 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.43582056T>C

ClinVar: NM_020975.5(RET): c.73+9277T>C

Heterozygous

0.774073
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: risk factor: Hirschsprung disease 1 (HSCR1)
risk factor: Hirschsprung disease (HSCR)
Notes:

View/edit on GenNotes
Clinvar entries without associated notes:

chr3:g.50649499A>T

ClinVar: NM_013324.5(CISH): c.-524T>A

Heterozygous

0.775558 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.35669983A>G

ClinVar: NM_001145775.2(FKBP5): c.-20+18122T>C

Heterozygous

0.778000
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: drug response: fluoxetine response - Efficacy
drug response: Selective serotonin reuptake inhibitors response - Efficacy
drug response: mirtazapine response - Efficacy
drug response: antidepressants response - Efficacy
drug response: venlafaxine response - Efficacy
drug response: paroxetine response - Efficacy
drug response: citalopram response - Efficacy
Notes:

View/edit on GenNotes

chr1:g.203155882G>C

ClinVar: NM_001276.2(CHI3L1): c.-131C>G

Heterozygous

0.785500 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.164007820A>G

ClinVar: NC_000004.12: g.163086668A>G

Homozygous

0.785737 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.99382096C>T

ClinVar: NM_017460.5(CYP3A4): c.-392G>A

Homozygous

0.791650 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.241815308A>G

ClinVar: NM_000030.2(AGXT): c.777-44A>G

Homozygous

0.793193 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.46672943A>G

ClinVar: NM_001168357.1(PLA2G7): c.1136T>C (p.Val379Ala)

Homozygous

0.793418 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.114415368G>C

ClinVar: NM_015967.6(PTPN22): c.-1123C>G

Heterozygous

0.794711 Clinvar entries without associated notes: Add effect notes to GenNotes

chr13:g.95714976C>T

ClinVar: NM_005845.4(ABCC4): c.3348G>A (p.Lys1116=)

Homozygous

0.796717 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.166574246G>A

ClinVar: NM_003181.3(TBXT): c.1034+79C>T

Homozygous

0.797300 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11606312T>C

ClinVar: NM_002052.4(GATA4): c.617-116T>C

Heterozygous

0.813458 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.1078187G>A

ClinVar: NM_001131034.3(RNF212): c.362+1497C>T

Heterozygous

0.825905 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.9994215C>T

ClinVar: NM_001001290.1(SLC2A9): c.323+4190G>A

Homozygous

0.836971 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.16177687G>A

ClinVar: NM_004996.3(ABCC1): c.2292+288G>A

Homozygous

0.845957 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.61690321A>G

ClinVar: NM_017780.3(CHD7): c.1666-3238A>G

Heterozygous

0.860600 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.37429661A>G

ClinVar: NM_012203.1(GRHPR): c.494-68A>G

Homozygous

0.862999 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.116663707G>A

ClinVar: NM_052968.4(APOA5): c.-644C>T

Heterozygous

0.899677 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.109527373A>G

ClinVar: NM_022336.3(EDAR): c.655+30T>C

Homozygous

0.908130 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.116660686G>A

ClinVar: NM_052968.4(APOA5): c.*158C>T

Heterozygous

0.931758 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.55523033A>G

ClinVar: NM_174936.3(PCSK9): c.1026A>G (p.Gln342=)

Homozygous

0.982935 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.169519049T>C

ClinVar: NM_000130.4(F5): c.1601G= (p.Arg534=)

Homozygous

0.983048 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.34635598T>C

ClinVar: NM_005866.3(SIGMAR1): c.*31A>G

Homozygous

0.988181 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.11221454T>C

ClinVar: NM_000527.4(LDLR): c.1060+7T>C

Homozygous

0.999903 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.51549496T>T

ClinVar: NM_002443.3(MSMB): c.-89T=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.66328095T>T

ClinVar: NM_001104.3(ACTN3): c.1729C>T (p.Arg577Ter)

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.113357193G>G

ClinVar: NM_016816.3(OAS1): c.1039-1G=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31107689C>C

ClinVar: NM_024006.5(VKORC1): c.-226-1413G=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.48277749C>C

ClinVar: NM_000088.3(COL1A1): c.104-441G=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.48280990A>A

ClinVar: NM_000088.3(COL1A1): c.-2116T=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.46453463T>T

ClinVar: NM_005904.3(SMAD7): c.743-5183A=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.45408836T>T

ClinVar: NM_000041.3(APOE): c.-83-203T=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.196696933G>G

ClinVar: NM_000186.3(CFH): c.2237-543G=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.191964633T>T

ClinVar: NM_003151.3(STAT4): c.274-23582A=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.148206440G>G

ClinVar: NM_000024.5(ADRB2): c.46A>G (p.Arg16Gly)

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.148206473G>G

ClinVar: NM_000024.5(ADRB2): c.79C>G (p.Gln27Glu)

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.8007876G>G

ClinVar: NM_138426.3(GLCCI1): c.-559-547G=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.116312439C>C

ClinVar: NM_001127500.2(MET): c.-207C=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.18258316G>G

ClinVar: NM_000015.2(NAT2): c.803G= (p.Arg268=)

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes