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
RS769063911 ACE Health Risk Pathogenic/Likely pathogenic Microvascular complications of diabetes, susceptibility to
RS769064430 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS769064443 MTFMT Health Risk Pathogenic MTFMT-Related Disorders, MTFMT-Related Disorders
RS769066903 LHB Health Risk Pathogenic Isolated lutropin deficiency, Isolated lutropin deficiency
RS769066955 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS769068305 IRF6 Health Risk Pathogenic/Likely pathogenic Van der Woude syndrome 1, Popliteal pterygium syndrome
RS769070143 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS769072338 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS769073315 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS769074792 TYRP1 Health Risk Pathogenic —
RS769075304 SKIC3 Health Risk Likely pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome
RS769075694 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS769076549 C2CD3 Health Risk Likely pathogenic Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
RS769076600 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS769076842 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769076971 MBD4 Health Risk Pathogenic MBD4-related disorder, Inborn genetic diseases
RS769077319 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS769078093 TTC19 Health Risk Pathogenic —
RS769078432 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS769079323 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS769079461 PAK1 Health Risk Likely pathogenic Intellectual developmental disorder with macrocephaly, seizures
RS769080151 CBS Health Risk Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS769080435 CLCN7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769081286 CDHR1 Health Risk Pathogenic —
RS769081927 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS769083534 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS769083884 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum
RS769085274 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS769085707 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS769086289 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 3
RS769088023 TUB Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS769088578 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 7
RS769089143 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS769090647 CYP11B2 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Corticosterone methyloxidase type 2 deficiency
RS769091629 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS769092155 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS769092288 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS769092535 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS769093505 SOS2 Health Risk Conflicting classifications of pathogenicity SOS2-related disorder, Noonan syndrome 9
RS769094437 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS769094708 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS769094940 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS769095184 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, Anophthalmia-microphthalmia syndrome
RS769095538 PDE11A Health Risk Likely pathogenic Pigmented nodular adrenocortical disease, primary
RS769095855 TTC21B Health Risk Pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS769095978 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS769096295 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS769096297 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS769096434 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS769097070 WDR91 Health Risk Likely pathogenic See cases, See cases
RS769097111 ANKRD26 Health Risk Conflicting classifications of pathogenicity ANKRD26-related disorder, Inborn genetic diseases
RS769097541 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS769097909 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769098388 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS769099171 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS769100574 DCLRE1B Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 8
RS769100855 TONSL Health Risk Pathogenic Sponastrime dysplasia, Sponastrime dysplasia
RS769101846 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS769102771 POC1B Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS769103057 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS769103179 COL10A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769103567 SI Health Risk Pathogenic —
RS76910485 GBA1 Health Risk Pathogenic Gaucher disease perinatal lethal, Gaucher disease perinatal lethal
RS769105267 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS769106207 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS769106495 NDUFS4 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS769106895 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS769106952 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS769107613 TRPV4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS769109745 TBCD Health Risk Pathogenic —
RS769110552 PCBD1 Health Risk Pathogenic Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RS769110777 HSPD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 13, Spastic paraplegia
RS769111472 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS769111673 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS769111782 DOCK8 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 3, autosomal recessive
RS769112084 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases
RS769112180 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769114540 RAB3GAP2 Health Risk Likely pathogenic Martsolf syndrome, Martsolf syndrome
RS769114543 ALG14 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 15, Myopathy
RS769115550 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS769116749 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS769116796 FZD6 Health Risk Pathogenic Nephroblastoma, Nephroblastoma
RS769117339 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS769118115 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2F
RS769118365 DNM1L Health Risk Conflicting classifications of pathogenicity —
RS769118642 LAMC3 Health Risk Pathogenic —
RS769118926 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS769118968 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769120532 CC2D1A Health Risk Conflicting classifications of pathogenicity CC2D1A-related disorder, CC2D1A-related disorder
RS769120676 INF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 5
RS769120755 ERCC4 Health Risk Likely pathogenic —
RS769120800 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, Inborn genetic diseases
RS769121879 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS769123303 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769123461 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS769124319 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS769124771 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS769126116 CELSR3 Health Risk Likely pathogenic See cases, See cases
RS769126261 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769126818 ACTN2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1AA
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