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
RS1416911485 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS141691317 MED12L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1416924105 PLA2G6 Health Risk Likely pathogenic PLA2G6-associated neurodegeneration, PLA2G6-associated neurodegeneration
RS141692693 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS141693578 MEOX1 Health Risk Conflicting classifications of pathogenicity MEOX1-related disorder, MEOX1-related disorder
RS141694326 NLRP7 Health Risk Conflicting classifications of pathogenicity Hydatidiform mole, recurrent
RS141695023 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS141695705 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1416960576 OTOG Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS141696191 POC5 Health Risk Conflicting classifications of pathogenicity —
RS141696914 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS1416969857 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS141697267 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Inborn genetic diseases
RS1416973473 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS141698221 TUBB1 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, isolated
RS141698427 FLNB Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS141698692 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS1416988044 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141698985 IL7R Health Risk Likely pathogenic Histiocytic medullary reticulosis, Immunodeficiency 104
RS141699123 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1417000465 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS141701364 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS1417019207 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1417020694 WFS1 Health Risk Pathogenic —
RS141702094 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1417025395 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS141702885 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1417035592 ARID1B Health Risk Pathogenic Intellectual disability, Coffin-Siris syndrome 1
RS1417036453 SCN5A Health Risk Pathogenic Brugada syndrome, Cardiovascular phenotype
RS141703746 VPS13B Health Risk Likely pathogenic Cohen syndrome, VPS13B-related disorder
RS141704101 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS141704244 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1417046088 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1417046511 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS141704823 C5 Health Risk Conflicting classifications of pathogenicity C5-related disorder, Colon adenocarcinoma
RS141705276 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141705330 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS1417057515 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS141706094 REN Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis
RS141706152 TENM4 Health Risk Conflicting classifications of pathogenicity —
RS1417062461 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS141706561 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Retinal dystrophy
RS141706688 CNTN1 Health Risk Conflicting classifications of pathogenicity Compton-North congenital myopathy, Compton-North congenital myopathy
RS141706767 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS141707292 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS141707567 SEMA4A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 10
RS141707850 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS1417082178 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS141708238 COMP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141708554 TTC21B Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS1417088430 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS1417089374 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS141709096 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS141709685 GLE1 Health Risk Conflicting classifications of pathogenicity Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1
RS141710153 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Inborn genetic diseases
RS1417111404 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
RS141711342 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1417119878 GDF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141712104 VSX2 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia
RS1417121666 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS141713197 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ANK3-related disorder
RS1417145000 TMTC3 Health Risk Pathogenic —
RS1417146153 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS141715004 SLC9A1 Health Risk Conflicting classifications of pathogenicity —
RS1417151403 ITGB4 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 5A
RS141715248 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS141715606 L2HGDH Health Risk Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS141715950 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS141716537 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS141716975 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS141717050 STXBP2 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis
RS1417172313 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1417174086 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1417174760 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1417177018 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS141717814 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS141717966 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS1417182811 COL11A2 Health Risk Pathogenic/Likely pathogenic Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS141718442 SOX6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1417184535 ABCA4 Health Risk Pathogenic Retinal dystrophy, ABCA4-related retinopathy
RS141718495 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kleefstra syndrome 2
RS1417190414 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1417190717 ATR Health Risk Pathogenic/Likely pathogenic —
RS141719183 PLEKHG3 Health Risk Conflicting classifications of pathogenicity —
RS141719745 ERCC6L2 Health Risk Conflicting classifications of pathogenicity Pancytopenia-developmental delay syndrome, Inborn genetic diseases
RS141720146 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1417203331 OBSCN Health Risk Pathogenic —
RS141720633 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, 7 conditions
RS141720810 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS141721173 SERPINH1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 10, Preterm premature rupture of membranes
RS1417213536 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS141721605 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy
RS1417217555 MYT1L Health Risk Pathogenic —
RS1417219341 VPS13A Health Risk Pathogenic —
RS1417226023 DEAF1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 24
RS141722672 BAAT Health Risk Conflicting classifications of pathogenicity Bile acid conjugation defect 1, BAAT-related disorder
RS1417230303 LCT Health Risk Pathogenic —
RS141723499 LIAS Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Inborn genetic diseases
RS141723617 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1417236940 NSD1 Health Risk Conflicting classifications of pathogenicity NSD1-related disorder, Inborn genetic diseases
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