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
RS749692173 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS749693224 GJB2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, 7 conditions
RS749693247 NDUFV2;NDUFV2-AS1 Health Risk Likely pathogenic —
RS749693779 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Inborn genetic diseases
RS749694204 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS749695729 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS749696049 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS749696299 TRIM32 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Sarcotubular myopathy
RS749696998 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS749697698 SCN5A Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome 3
RS749698519 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS749701451 AARS2 Health Risk Pathogenic Leukoencephalopathy, progressive
RS749702058 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS749702063 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS749702835 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS749702843 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS749703625 WASHC5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ritscher-Schinzel syndrome
RS749704215 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS749704610 ELP1 Health Risk Pathogenic —
RS749704655 RCBTB1 Health Risk Pathogenic —
RS749704755 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis
RS749705611 WDR73 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Galloway-Mowat syndrome 1
RS749705821 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS749705881 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS749705939 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749706596 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS749707316 POLE Health Risk Conflicting classifications of pathogenicity Polymerase proofreading-related adenomatous polyposis, Hereditary cancer-predisposing syndrome
RS749707556 KIDINS220 Health Risk Conflicting classifications of pathogenicity KIDINS220-related disorder, Inborn genetic diseases
RS749708827 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS749708858 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS749709000 PLOD2 Health Risk Pathogenic Bruck syndrome 2, Osteogenesis imperfecta
RS749709445 TBK1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS749711246 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS749711324 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS749711628 FERMT1 Health Risk Conflicting classifications of pathogenicity Kindler syndrome, Kindler syndrome
RS749711805 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, DNAH5-related disorder
RS749712460 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS749712560 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS749712745 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS749714198 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS749714265 DRC2 Health Risk Pathogenic Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
RS749714444 TPP1 Health Risk Pathogenic —
RS749714463 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease, 7 conditions
RS749714667 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS749715515 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS749715948 BIRC3 Health Risk Likely pathogenic Regional enteritis, Regional enteritis
RS749716412 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS749716796 RELA Health Risk Likely pathogenic Mucocutaneous ulceration, chronic
RS749716985 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS749718096 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS749718711 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Microcephaly 2
RS749720760 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS749721462 PDSS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS749721573 LAMC2 Health Risk Pathogenic —
RS749722543 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS749726173 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, Inborn genetic diseases
RS749726310 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS749727182 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS749727938 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS749728488 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS749730219 GMPPB Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS749730274 MEFV Health Risk Conflicting classifications of pathogenicity Acute febrile neutrophilic dermatosis, Familial Mediterranean fever
RS749730642 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS749730748 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS749730757 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS749731714 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749731838 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS749731888 CYLC1 Health Risk Conflicting classifications of pathogenicity —
RS749732262 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS749732303 KMT2D Health Risk Conflicting classifications of pathogenicity KMT2D-related disorder, Kabuki syndrome
RS749734111 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS749734276 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS749734323 VLDLR Health Risk Conflicting classifications of pathogenicity —
RS749735503 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS749737942 WNT3 Health Risk Conflicting classifications of pathogenicity —
RS749738523 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS749738655 CRX Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS749738738 NDUFAF6 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 17
RS749738744 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive Alport syndrome
RS749740335 AXDND1;NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS749741013 GSS Health Risk Conflicting classifications of pathogenicity Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS749741980 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Inborn genetic diseases
RS749742102 SLC12A3 Health Risk Likely pathogenic Inborn genetic diseases, Familial hypokalemia-hypomagnesemia
RS749742731 TNXB Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype
RS749742837 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Deficiency of butyrylcholinesterase
RS749744865 AKR1D1 Health Risk Likely pathogenic AKR1D1-related disorder, AKR1D1-related disorder
RS749745135 RFX7 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder, autosomal dominant 71
RS749745247 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS749746550 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS749746650 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 12
RS749746725 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS749747871 MYO7A Health Risk Likely pathogenic Retinal dystrophy, Nonsyndromic genetic hearing loss
RS749748052 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS749750052 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS749750613 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS749752357 MYO6 Health Risk Pathogenic/Likely pathogenic Hearing impairment, Autosomal dominant nonsyndromic hearing loss 22
RS749752534 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749752972 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS749753053 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype
RS749753555 RHO Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
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