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
RS1427113333 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1427114724 SLC26A5 Health Risk Likely pathogenic —
RS142711931 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, Hecht syndrome
RS1427119360 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1427132712 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1427139632 GLE1 Health Risk Pathogenic —
RS1427144374 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS142714816 ALB Health Risk Conflicting classifications of pathogenicity Hyperthyroxinemia, familial dysalbuminemic
RS142714881 MTRR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS142715198 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, TRIM32-related disorder
RS142715413 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS142715775 POMC Health Risk Conflicting classifications of pathogenicity POMC-related disorder, POMC-related disorder
RS1427164968 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS142717240 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Woolly hair-skin fragility syndrome
RS142718547 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS1427186016 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS142719253 SRPX2 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy, intellectual disability
RS142719863 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS142720126 PHYH Health Risk Pathogenic —
RS142720855 COL7A1 Health Risk Conflicting classifications of pathogenicity COL7A1-related disorder, Inborn genetic diseases
RS1427210237 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS142721178 ATP2A2 Health Risk Conflicting classifications of pathogenicity —
RS1427212110 RMND1 Health Risk Likely pathogenic —
RS142721539 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, SLC7A9-related disorder
RS142721656 MERTK Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS142721836 CNOT3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1427235870 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS142724257 SIN3A Health Risk Conflicting classifications of pathogenicity —
RS142724470 SLC26A8 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 3, Spermatogenic failure 3
RS1427253158 MYO18B Health Risk Likely pathogenic —
RS142726001 DZIP1L Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 5, Polycystic kidney disease 5
RS1427261340 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS142726563 NSMF Health Risk Conflicting classifications of pathogenicity —
RS1427267 LRRK2 Health Risk Uncertain risk allele Leprosy, susceptibility to
RS1427276872 MYO1E Health Risk Pathogenic Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6
RS142729488 FDX2 Health Risk Conflicting classifications of pathogenicity FDX2-related disorder, Uterine corpus endometrial carcinoma
RS142729872 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS1427299519 ASXL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1427299751 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS142730126 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Thyroid cancer
RS1427304513 TWNK Health Risk Pathogenic —
RS1427317043 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS142732109 ABCA4 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 3, Age related macular degeneration 2
RS1427321619 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS142732823 MCM4 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
RS1427331961 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS142733588 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS142733590 EPS8 Health Risk Conflicting classifications of pathogenicity EPS8-related disorder, EPS8-related disorder
RS142733791 NIN Health Risk Conflicting classifications of pathogenicity Seckel syndrome 7, NIN-related disorder
RS1427345303 EP300 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Menke-Hennekam syndrome 2
RS142736839 HECW2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with hypotonia
RS142736845 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS142737041 TMPRSS15 Health Risk Conflicting classifications of pathogenicity —
RS1427371913 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS142737453 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1427384868 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS142739227 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS142739309 REN Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis
RS1427402192 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS142740233 SLC12A5 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS142740596 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, VCAN-related disorder
RS142741081 SLC1A2 Health Risk Conflicting classifications of pathogenicity SLC1A2-related disorder, SLC1A2-related disorder
RS142742071 CEP290 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 6, Bardet-Biedl syndrome 14
RS142742183 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS142742242 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS1427427775 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS142742847 LAMB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1427435078 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1427438113 EHMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kleefstra syndrome 1
RS1427441061 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Uterine carcinosarcoma
RS1427441821 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142744204 KCND3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS142744723 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS142744907 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS142745096 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS142746163 ILDR1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Autosomal recessive nonsyndromic hearing loss 42
RS142746698 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS142747169 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS142747191 LBR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1427473572 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS142747430 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS142747446 ENAM Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta, ENAM-related disorder
RS1427477002 CYP11B2 Health Risk Likely pathogenic —
RS142748621 OTOF Health Risk Conflicting classifications of pathogenicity —
RS142749216 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS142749412 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Scapuloperoneal spinal muscular atrophy
RS142749838 CNOT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142750223 KRT16 Health Risk Conflicting classifications of pathogenicity Pachyonychia congenita 1, Palmoplantar keratoderma
RS142750310 CETP Health Risk Conflicting classifications of pathogenicity Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
RS1427517965 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS142752477 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS142752989 TNFAIP3 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, familial
RS142753066 EIF2B3 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS142753103 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS1427532570 FRAS1 Health Risk Likely pathogenic —
RS142753283 COL11A1 Health Risk Conflicting classifications of pathogenicity Squamous cell carcinoma of the head and neck, COL11A1-related disorder
RS142754121 HMCN1 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, HMCN1-related disorder
RS142755118 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS1427556033 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS142755921 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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