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
RS527947459 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS527951173 KDM5B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 65
RS527954570 NDUFAF3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS527962872 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Senior-Loken syndrome 4
RS527964137 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS527967292 PTPRQ Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A
RS527970445 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS527970795 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS527976707 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS527977882 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS527985598 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS527997591 CPAP Health Risk Conflicting classifications of pathogenicity Seckel syndrome 4, Microcephaly 6
RS528000488 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS528009333 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS528020839 ZSWIM6 Health Risk Conflicting classifications of pathogenicity —
RS528026295 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS528030561 SYNJ1 Health Risk Conflicting classifications of pathogenicity Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS528031000 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex
RS528032957 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS528036202 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS528041468 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS52804924 MC4R Health Risk Conflicting classifications of pathogenicity Obesity, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS528062851 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS528063130 INF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E
RS528068159 DSPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS528069315 LRIT3 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS528069912 GPSM2 Health Risk Pathogenic/Likely pathogenic Chudley-McCullough syndrome, Rare genetic deafness
RS528073027 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS528074239 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS528076586 WT1 Health Risk Conflicting classifications of pathogenicity Frasier syndrome, Drash syndrome
RS528081931 CSF1R Health Risk Conflicting classifications of pathogenicity —
RS528085780 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS528087095 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS528096976 DNAJC5 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS528105619 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS528108868 MAGEL2 Health Risk Conflicting classifications of pathogenicity —
RS528113865 USH2A Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS528130317 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS528131651 ALS2 Health Risk Conflicting classifications of pathogenicity ALS2-related disorder, Amyotrophic lateral sclerosis type 2
RS528142333 ZBTB18 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 22
RS528143978 NDST1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, NDST1-related disorder
RS528151296 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS528157833 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, ARSB-related disorder
RS528158701 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS528159783 TUBGCP6 Health Risk Pathogenic —
RS528165789 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS528169616 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS528171871 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS528173262 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS528173586 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Inborn genetic diseases
RS528179434 ASPA Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS5282 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Congenital adrenal hyperplasia
RS528201408 DYNC2LI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Short-rib thoracic dysplasia 15 with polydactyly
RS528201736 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype
RS528213425 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS528216574 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS528219097 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS528223406 HNMT Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 51
RS52822694 IL21R Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Inborn genetic diseases
RS528236655 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS528237932 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS528239871 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS528243561 LPL Health Risk Likely pathogenic —
RS528251146 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS528252728 MYO3A Health Risk Conflicting classifications of pathogenicity —
RS528255772 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS528257059 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS52826008 INSR Health Risk Conflicting classifications of pathogenicity —
RS528261173 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS528264100 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS528271179 DVL3 Health Risk Conflicting classifications of pathogenicity DVL3-related disorder, Inborn genetic diseases
RS528276006 MITF Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome
RS528279616 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS528280483 CUL7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 3M syndrome 1
RS528288865 SFTPB Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS528292477 HIVEP2 Health Risk Conflicting classifications of pathogenicity Congenital ocular coloboma, Inborn genetic diseases
RS528295894 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex 1D, generalized
RS528302390 PKD1L1 Health Risk Pathogenic/Likely pathogenic Situs inversus, Heterotaxy
RS528303127 KCNT2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 57
RS528307346 POMK Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS528319887 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS528321695 ABHD5 Health Risk Likely pathogenic —
RS528327447 DLL3 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 1, autosomal recessive
RS528329600 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS528334716 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS528337895 ODAD3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 30, Inborn genetic diseases
RS528341556 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS528342000 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Inborn genetic diseases
RS528344809 CLDN16 Health Risk Conflicting classifications of pathogenicity Primary hypomagnesemia, Primary hypomagnesemia
RS528349466 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS528350505 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS528354205 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS528358945 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS528364662 ABCC8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS528367092 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS52836744 INSR Health Risk Pathogenic Leprechaunism syndrome, Leprechaunism syndrome
RS528369909 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS528370544 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS528376963 FGFR1 Health Risk Pathogenic/Likely pathogenic Holoprosencephaly sequence, Holoprosencephaly sequence
RS528390681 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
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