SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1064793637 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1064793639 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064793642 MYBPC3 Health Risk Pathogenic —
RS1064793643 FBN1 Health Risk Pathogenic —
RS1064793644 DMD Health Risk Pathogenic —
RS1064793645 AR Health Risk Pathogenic —
RS1064793646 TSC2 Health Risk Pathogenic —
RS1064793649 KMT2D Health Risk Pathogenic —
RS1064793651 SCN5A Health Risk Pathogenic —
RS1064793655 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064793656 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1064793657 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064793658 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064793660 NOTCH2 Health Risk Pathogenic —
RS1064793662 ACSF3 Health Risk Pathogenic Methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1064793663 PIK3CA Health Risk Pathogenic Global developmental delay, Hypospadias
RS1064793664 CHD7 Health Risk Pathogenic —
RS1064793665 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1064793668 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064793671 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064793672 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1064793673 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1064793674 LMNA Health Risk Pathogenic —
RS1064793675 FLG Health Risk Pathogenic —
RS1064793677 ADNP Health Risk Pathogenic —
RS1064793678 SCN1A Health Risk Pathogenic —
RS1064793679 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1064793681 SNX14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS1064793682 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1064793683 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS1064793684 EDAR Health Risk Pathogenic —
RS1064793685 GLI3 Health Risk Pathogenic —
RS1064793686 RPL5 Health Risk Pathogenic —
RS1064793688 MSH2 Health Risk Conflicting classifications of pathogenicity Breast carcinoma, Hereditary nonpolyposis colorectal neoplasms
RS1064793691 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064793692 IQCB1 Health Risk Pathogenic —
RS1064793693 TSC1 Health Risk Pathogenic —
RS1064793695 ABCA12 Health Risk Pathogenic —
RS1064793698 PTCH1 Health Risk Pathogenic —
RS1064793703 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1064793704 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064793705 NSD1 Health Risk Pathogenic —
RS1064793707 ASPM Health Risk Pathogenic —
RS1064793709 PRKAR1A Health Risk Pathogenic —
RS1064793712 PRKAR1A Health Risk Pathogenic —
RS1064793714 MKKS Health Risk Pathogenic —
RS1064793715 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064793716 APC Health Risk Likely pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS1064793717 RYR1 Health Risk Pathogenic —
RS1064793721 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1064793722 SCN8A Health Risk Pathogenic —
RS1064793723 FBN1 Health Risk Pathogenic —
RS1064793724 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064793729 CNKSR2 Health Risk Pathogenic —
RS1064793730 MEF2C Health Risk Pathogenic —
RS1064793731 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia
RS1064793732 PIK3CA Health Risk Pathogenic Cowden syndrome, Ovarian neoplasm
RS1064793733 CEP290 Health Risk Pathogenic —
RS1064793734 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1064793735 DCX Health Risk Pathogenic —
RS1064793739 POLR3B Health Risk Pathogenic —
RS1064793741 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS1064793742 DMD Health Risk Pathogenic —
RS1064793743 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1064793745 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1064793746 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064793747 VPS13B Health Risk Pathogenic —
RS1064793748 EHMT1 Health Risk Pathogenic —
RS1064793749 RHO Health Risk Likely pathogenic Autosomal dominant retinitis pigmentosa, Autosomal dominant retinitis pigmentosa
RS1064793753 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1064793755 OPHN1 Health Risk Likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, Thyroid cancer
RS1064793756 GATAD2B Health Risk Pathogenic —
RS1064793757 BTD Health Risk Pathogenic —
RS1064793758 FANCB Health Risk Pathogenic —
RS1064793759 KMT2C Health Risk Pathogenic —
RS1064793760 COL17A1 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS1064793761 PURA Health Risk Pathogenic —
RS1064793762 PKD1 Health Risk Pathogenic —
RS1064793763 NHEJ1 Health Risk Pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS1064793765 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1064793766 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1064793767 NDUFAF1 Health Risk Pathogenic —
RS1064793768 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1064793769 CHD7 Health Risk Pathogenic —
RS1064793770 FBN1 Health Risk Pathogenic —
RS1064793771 SBF2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, SBF2-related disorder
RS1064793772 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793778 APC Health Risk Pathogenic —
RS1064793779 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1064793780 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1064793781 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1064793786 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Multiple congenital exostosis
RS1064793789 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064793791 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1064793792 SERPING1 Health Risk Pathogenic —
RS1064793795 COG4 Health Risk Likely pathogenic —
RS1064793796 DDX3X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 102
RS1064793797 TSC2 Health Risk Pathogenic —
RS1064793799 LDLR Health Risk Likely pathogenic LDLR-related disorder, LDLR-related disorder
RS1064793800 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
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