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

Variant Allele Freq Info

chr1:g.161514542A>C

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

Heterozygous

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

Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.55247454G>A

ClinVar: NM_001012515.2(FECH): c.68-23C>T

Heterozygous

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

Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.41512841G>T

ClinVar: NM_000767.4(CYP2B6): c.516G>T (p.Gln172His)

Heterozygous

Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.49191041C>T

ClinVar: NM_000145.3(FSHR): c.919G>A (p.Ala307Thr)

Heterozygous

Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.24109722G>A

ClinVar: NM_001301339.1(CHCHD10): c.100C>T (p.Pro34Ser)

Heterozygous

0.001132 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.49209095C>T

ClinVar: NM_173546.2(KLHDC8B): c.-158C>T

Heterozygous

0.002995 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

0.009142 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

0.010716 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.142780339C>T

ClinVar: NM_001018077.1(NR3C1): c.66G>A (p.Glu22=)

Heterozygous

0.017832 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

0.023622 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.18139228C>T

ClinVar: NM_000367.4(TPMT): c.460G>A (p.Ala154Thr)

Heterozygous

0.027493 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

0.036032 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.18130918T>C

ClinVar: NM_000367.4(TPMT): c.719A>G (p.Tyr240Cys)

Heterozygous

0.036600 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

0.042138 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

0.042212 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

0.056947 Clinvar entries without associated notes: Add effect notes to GenNotes

chr21:g.46931109G>A

ClinVar: NM_030582.3(COL18A1): c.4309G>A (p.Asp1437Asn)

Heterozygous

0.058624 Clinvar entries without associated notes:

chr3:g.45814094G>A

ClinVar: NM_020208.3(SLC6A20): c.596C>T (p.Thr199Met)

Heterozygous

0.070191 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.116153891C>G

ClinVar: NM_000031.5(ALAD): c.177G>C (p.Lys59Asn)

Heterozygous

0.082537 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.98165091T>C

ClinVar: NM_000110.3(DPYD): c.496A>G (p.Met166Val)

Heterozygous

0.086276
Trait: Toxicity/adverse response to fluorouracil and capecitabine
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: drug response: fluorouracil response - Toxicity/ADR
Notes:

This variant is reported to affect drug metabolism, and is associated with adverse reactions to chemotherapy with fluorouracil and capecitabine.

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Clinvar entries without associated notes:

chr1:g.115236057G>A

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

Heterozygous

0.087032
Disease: Adenosine Deaminase Deficiency
Inheritance: recessive
Significance: causal
Evidence: reported
Clinvar records: Uncertain significance: not specified
Pathogenic: Muscle AMP deaminase deficiency (MMDD)
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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chr8:g.143994266A>G

ClinVar: NM_000498.3(CYP11B2): c.1157T>C (p.Val386Ala)

Homozygous

0.088694 Clinvar entries without associated notes:

chr19:g.41515263A>G

ClinVar: NM_000767.4(CYP2B6): c.785A>G (p.Lys262Arg)

Homozygous

0.091984
Trait: Reduced efavirenz metabolism
Inheritance: additive
Significance: causal
Evidence: reported
Clinvar records: drug response: 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:

chr2:g.63131731G>A

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

Heterozygous

0.094450
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

0.097874 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.69824024C>T

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

Heterozygous

0.115800
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Notes:

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Clinvar entries without associated notes:

chr20:g.23618427C>T

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

Heterozygous

0.120111
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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chr17:g.45360730T>C

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

Heterozygous

0.123151
Disease: Posttransfusion purpura (PTP)
Inheritance: recessive
Significance: risk factor
Evidence: well-established
Clinvar records: Pathogenic: Posttransfusion purpura (PTP)
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: risk factor: Myocardial infarction
Benign: PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM
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
risk factor: Fracture, hip, susceptibility to
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
Pathogenic: Thrombocytopenia, neonatal alloimmune (NAIT)
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

0.129347 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.179220638A>C

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

Heterozygous

0.170100 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

0.183411 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31105554A>C

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

Heterozygous

0.187182 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

0.188688 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

0.201957 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

0.205868 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.21382619T>C

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

Heterozygous

0.219200 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.38645420T>C

ClinVar: NM_198056.2(SCN5A): c.1673A>G (p.His558Arg)

Heterozygous

0.221139 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.114758349C>T

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

Heterozygous

0.227800 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.139884509C>T

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

Heterozygous

0.238200 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.16251599C>T

ClinVar: NM_001171.5(ABCC6): c.3803G>A (p.Arg1268Gln)

Homozygous

0.244008 Clinvar entries without associated notes:

chr10:g.96405502G>A

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

Heterozygous

0.245400 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.13007458C>T

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

Heterozygous

0.254000 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.104897985T>C

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

Heterozygous

0.255600 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

0.256434 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

0.269634 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

0.272889 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.13010643G>T

ClinVar: NM_000159.3(GCDH): c.*288G>T

Heterozygous

0.278000 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

0.294921 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.21391194G>A

ClinVar: NM_025221.5(KCNIP4): c.62-506862C>T

Heterozygous

0.301300 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.57005479C>A

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

Homozygous

0.313100 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

0.317064 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

0.331757 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.136301982C>G

ClinVar: NM_139025.4(ADAMTS13): c.1342C>G (p.Gln448Glu)

Heterozygous

0.343880 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.234668570C>T

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

Homozygous

0.354000 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

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

chr19:g.39738787C>T

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

Heterozygous

0.355800 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

0.359478 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.32579788A>G

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

Heterozygous

0.363600 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

0.373966 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

0.384015 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.208494234T>C

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

Heterozygous

0.386400 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.151948366G>A

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

Heterozygous

0.412100 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.30726777A>T

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

Heterozygous

0.415300 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31104509C>G

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

Heterozygous

0.416300 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

0.417479 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

chr5:g.148206440G>A

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

Heterozygous

0.420247 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.103418158A>G

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

Heterozygous

0.437100 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

0.445763 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

0.450540 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.45673029T>C

ClinVar: NM_001321015.1(GATM): c.-396-270A>G

Heterozygous

0.450900 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

0.462211 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.108283161C>A

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

Heterozygous

0.468500 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

0.470019 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

0.472861 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

0.475612 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

0.475776 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.60720246C>T

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

Homozygous

0.483200 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

0.486570 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.166909544C>T

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

Homozygous

0.493400 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.120663363T>C

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

Homozygous

0.502200 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31110981G>A

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

Heterozygous

0.525600 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

0.536232 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.63258565C>G

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

Heterozygous

0.546700 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.49189921C>T

ClinVar: NM_000145.3(FSHR): c.2039G>A (p.Ser680Asn)

Heterozygous

0.572597 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.154072020T>C

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

Heterozygous

0.577300 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.45620985C>T

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

Heterozygous

0.587500 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31103796A>G

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

Heterozygous

0.609600 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.13010520A>G

ClinVar: NM_000159.3(GCDH): c.*165A>G

Heterozygous

0.613039 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.38298203C>G

ClinVar: NM_000104.3(CYP1B1): c.1294C= (p.Leu432=)

Heterozygous

0.619272 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.35861068T>C

ClinVar: NM_002185.3(IL7R): c.197T>C (p.Ile66Thr)

Homozygous

0.627516 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

0.631332 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

0.646693 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.35871190G>A

ClinVar: NM_002185.3(IL7R): c.412G>A (p.Val138Ile)

Homozygous

0.651602 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

0.658579 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.84192168G>C

ClinVar: NM_015697.7(COQ2): c.779-1022C>G

Heterozygous

0.660100 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

0.682311 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.69389217C>G

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

Heterozygous

0.683500 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.6295693C>G

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

Heterozygous

0.721200 Clinvar entries without associated notes: Add effect notes to GenNotes

chr13:g.47411985A>G

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

Homozygous

0.727200 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.41515702T>C

ClinVar: NM_000767.4(CYP2B6): c.823-197T>C

Heterozygous

0.734800 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.99382096C>T

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

Homozygous

0.769200 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 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.78956432T>C

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

Heterozygous

0.782300 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

0.812045 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.169519049T>C

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

Homozygous

0.978494 Clinvar entries without associated notes: Add effect notes to GenNotes