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
RS202027758 GYG1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS202028021 BLK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 11, Monogenic diabetes
RS202028128 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O
RS202028401 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS202028563 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, Camptomelic dysplasia
RS202029187 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS202029322 FLNA Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Heterotopia
RS202029748 PROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal macular dystrophy type 2
RS202030098 GPR179 Health Risk Conflicting classifications of pathogenicity GPR179-related disorder, Inborn genetic diseases
RS202030113 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS202030208 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS202030341 SUCO Health Risk Conflicting classifications of pathogenicity —
RS202030777 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS202030811 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS202031511 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS202031614 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, SMARCAL1-related disorder
RS202031903 PDE6C Health Risk Conflicting classifications of pathogenicity Cone dystrophy 4, Achromatopsia
RS202032297 COL11A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Fibrochondrogenesis 2
RS202032347 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS202032875 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS202032913 CDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202033028 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS202033121 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS202033127 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS202033269 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS202033823 MYSM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202034094 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS202034123 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS202034435 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS202034466 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS202034783 SMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 3
RS202034810 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS202035484 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS202035530 EPHB4 Health Risk Conflicting classifications of pathogenicity —
RS202035723 SLC24A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202035881 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS202036078 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS202036087 ZDBF2 Health Risk Conflicting classifications of pathogenicity —
RS202036173 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KIDINS220-related disorder
RS202036744 POMK Health Risk Conflicting classifications of pathogenicity Limb-girdle muscular dystrophy due to POMK deficiency, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS202036979 KCNV2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Cone dystrophy with supernormal rod response
RS202037016 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS202037221 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS202037304 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS202037575 TULP3 Health Risk Pathogenic Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis
RS202037961 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS202037973 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS202038315 BRD4 Health Risk Conflicting classifications of pathogenicity —
RS202038498 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS202038499 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS202039305 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS202039332 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, Inborn genetic diseases
RS202039538 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS202039728 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS202040079 ADGRG6 Health Risk Conflicting classifications of pathogenicity ADGRG6-related disorder, Inborn genetic diseases
RS202040269 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS202040332 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS202040519 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS202040659 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS202040862 OBSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 3M syndrome 2
RS202040871 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS202041339 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS202041377 MYOF Health Risk Conflicting classifications of pathogenicity —
RS202041422 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Retinitis pigmentosa
RS202042110 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS202042156 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease
RS202042386 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS10-related disorder
RS202042636 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS202042826 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS202042951 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder
RS202043044 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS202043138 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS202043320 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS202043599 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Fibromatosis
RS202043641 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS202044086 SEC61A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202044160 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS202044661 TG Health Risk Likely pathogenic —
RS202044707 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS202044825 GP6 Health Risk Conflicting classifications of pathogenicity —
RS202044896 ARL6 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS202044973 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS202045210 SPEF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SPEF2-related disorder
RS202045701 GATA3 Health Risk Conflicting classifications of pathogenicity GATA3-related disorder, Hypoparathyroidism
RS202045863 XIRP2 Health Risk Conflicting classifications of pathogenicity —
RS202045892 FN1 Health Risk Conflicting classifications of pathogenicity —
RS202045972 PLCB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202046728 IRF8 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Immunodeficiency 32B
RS202046738 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS202046846 NCSTN Health Risk Conflicting classifications of pathogenicity Acne inversa, familial
RS202046911 TENM4 Health Risk Conflicting classifications of pathogenicity —
RS202046937 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS202046984 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS202047059 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS202047149 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS202047181 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, TRMU-related disorder
RS202047589 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS202047755 NDUFAF6 Health Risk Conflicting classifications of pathogenicity NDUFAF6-related disorder, NDUFAF6-related disorder
RS202047816 FCHO1 Health Risk Conflicting classifications of pathogenicity —
RS202047839 GPD1L Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
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