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
RS1339709390 CDC14A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 32, Autosomal recessive nonsyndromic hearing loss 32
RS1339714611 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS1339736533 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1339743866 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1339768860 SYN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy
RS1339776566 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS1339790364 PIK3R1 Health Risk Pathogenic SHORT syndrome, Agammaglobulinemia 7
RS1339799654 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1339806588 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1339810176 EHMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kleefstra syndrome 1
RS1339816196 NBAS Health Risk Pathogenic/Likely pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS1339829600 IBA57 Health Risk Pathogenic/Likely pathogenic Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
RS1339834464 ERCC6 Health Risk Pathogenic —
RS1339837843 LZTR1 Health Risk Pathogenic —
RS1339841048 ATP5MK Health Risk Likely pathogenic Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
RS1339843779 ELANE Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Inborn genetic diseases
RS1339856351 SHOX Health Risk Conflicting classifications of pathogenicity —
RS1339878885 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1339922051 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial restrictive
RS1339924833 KRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome, RASopathy
RS1339960032 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1339961633 EFHC1 Health Risk Conflicting classifications of pathogenicity Myoclonic epilepsy, juvenile
RS1339975972 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS1339994014 AAAS Health Risk Pathogenic —
RS1339996692 ALDH3A2 Health Risk Pathogenic —
RS1340013236 PROM1 Health Risk Pathogenic —
RS1340018682 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1340063197 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1340076007 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS1340079929 MARS2 Health Risk Conflicting classifications of pathogenicity —
RS1340087855 TTN Health Risk Likely pathogenic —
RS1340106074 ZFYVE26 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1340132582 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1340135231 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1340140983 PPOX Health Risk Pathogenic —
RS1340142756 MYO15A Health Risk Pathogenic —
RS1340144781 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1340148485 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Nephronophthisis
RS1340165752 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1340215600 GLI2 Health Risk Likely pathogenic Craniosynostosis syndrome, Craniosynostosis syndrome
RS1340240686 FMN2 Health Risk Likely pathogenic —
RS1340248169 ALS2 Health Risk Likely pathogenic Abnormal central motor function, Abnormal central motor function
RS1340261233 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1340261250 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autism spectrum disorder due to AUTS2 deficiency
RS1340263866 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1340266257 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1340269679 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1340279718 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1340295590 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS13402964 ABCB6 Health Risk Conflicting classifications of pathogenicity —
RS1340305839 WDR19 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1340335862 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1340359519 XPC Health Risk Pathogenic —
RS1340364290 CDHR1 Health Risk Pathogenic —
RS1340365803 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1340400889 SZT2 Health Risk Likely pathogenic —
RS1340421020 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1340425455 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS1340452845 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1340468176 COL2A1 Health Risk Likely pathogenic —
RS1340470620 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1340482195 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1340491788 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Netherton syndrome
RS1340500871 DGKE Health Risk Pathogenic/Pathogenic, low penetrance Immunoglobulin-mediated membranoproliferative glomerulonephritis, Atypical hemolytic-uremic syndrome
RS1340517333 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1340517984 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1340536283 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS1340562376 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1340588200 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, 7 conditions
RS1340595829 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS1340605654 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1340607126 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, Severe combined immunodeficiency disease
RS1340607654 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS1340609158 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1340611668 HHAT Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1340615883 PLCD1 Health Risk Likely pathogenic —
RS1340624774 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1340627860 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS1340636078 B4GALNT1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1340644609 TMEM260 Health Risk Likely pathogenic —
RS1340672941 COL13A1 Health Risk Pathogenic —
RS1340680560 ADAMTSL4 Health Risk Pathogenic —
RS1340709743 HJV Health Risk Pathogenic —
RS1340721389 SLC27A4 Health Risk Pathogenic/Likely pathogenic Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS1340725042 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS1340729837 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1340730123 TONSL Health Risk Pathogenic —
RS1340736923 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1340739925 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1340746441 ABCA4 Health Risk Pathogenic —
RS1340753734 VPS13A Health Risk Pathogenic —
RS1340785309 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1340827377 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1340830235 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1340834766 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1340849111 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1340850124 DRP2 Health Risk Pathogenic —
RS1340862175 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1340890598 IL1RN Health Risk Pathogenic Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis
RS1340894214 ALDOA Health Risk Likely pathogenic HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
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