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
RS1412480668 TG Health Risk Pathogenic Autoimmune thyroid disease, susceptibility to
RS1412482088 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS1412483498 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
RS1412486198 THPO Health Risk Pathogenic Thrombocytopenia, Amegakaryocytic thrombocytopenia
RS1412497882 TTN Health Risk Conflicting classifications of pathogenicity —
RS141250189 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1412505197 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS141250715 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS141251148 OR2T8 Health Risk Conflicting classifications of pathogenicity —
RS1412513898 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS141251507 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS1412515128 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS1412515838 TUBB2B Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 7, Inborn genetic diseases
RS141252097 PDE6A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1412522034 PCARE Health Risk Likely pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS141252362 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141252560 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Inborn genetic diseases
RS1412537279 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1412540989 DYNC1H1 Health Risk Conflicting classifications of pathogenicity DYNC1H1-related neurodevelopmental disorders, Charcot-Marie-Tooth disease axonal type 2O
RS141254616 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS141254777 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS141255461 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS141257132 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1412572728 ATP5F1A Health Risk Likely pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
RS1412574975 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, ALMS1-related disorder
RS1412575396 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS141257714 BCS1L Health Risk Pathogenic/Likely pathogenic GRACILE syndrome, Pili torti-deafness syndrome
RS141258018 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS141259126 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1412593296 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS141259390 TRIP11 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Achondrogenesis
RS141259922 TGFBR1 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection
RS141260047 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS141260153 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Carcinoma of colon
RS141260471 ATP6V1B2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1412610651 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS141261384 ZMYND10 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Inborn genetic diseases
RS141261536 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Cardiovascular phenotype
RS141262110 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS141262371 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Fibrous dysplasia of jaw
RS1412625438 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS141263564 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS141263831 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS141265263 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS1412653823 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS141265422 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS141265458 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1412657094 MUSK Health Risk Likely pathogenic Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 1
RS141266068 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1412663625 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS141268133 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS141268327 SCN9A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Channelopathy-associated congenital insensitivity to pain
RS141268593 HDAC6 Health Risk Conflicting classifications of pathogenicity —
RS141269120 SLC10A1 Health Risk Conflicting classifications of pathogenicity SLC10A1-related disorder, SLC10A1-related disorder
RS1412691915 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1412692974 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS141270468 HESX1 Health Risk Likely pathogenic —
RS1412728348 UROD Health Risk Pathogenic —
RS141273322 SKIC3 Health Risk Pathogenic —
RS141273371 PSMB8 Health Risk Conflicting classifications of pathogenicity Proteasome-associated autoinflammatory syndrome 1, Inborn genetic diseases
RS1412736656 SMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 3
RS141273695 OTC Health Risk Conflicting classifications of pathogenicity OTC-related disorder, Ornithine carbamoyltransferase deficiency
RS1412737307 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS141274774 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1412751721 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS141275388 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS141275433 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS141275528 IARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141275719 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS141275966 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS141276223 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141276237 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 35
RS1412765114 LOXHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141276542 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS141276889 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1412774624 STAR Health Risk Likely pathogenic —
RS141277535 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS141278078 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1412784172 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS141278696 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, Orofacial cleft 8
RS141278771 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1412791793 SYNE1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia, Beauce type
RS141279192 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Inborn genetic diseases
RS141279458 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS141280063 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS141280228 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1412804743 ACBD6 Health Risk Pathogenic Intellectual disability, Neurodevelopmental disorder with progressive movement abnormalities
RS141281020 RAB27A Health Risk Conflicting classifications of pathogenicity Griscelli syndrome type 2, Autoinflammatory syndrome
RS141281093 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS141281214 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1O
RS1412814368 SGCD Health Risk Pathogenic Abnormality of the musculature, Abnormality of the musculature
RS1412819148 WFS1 Health Risk Pathogenic —
RS1412833703 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1412836196 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS141283776 GRM7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141285752 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1412857849 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS141287105 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1412873206 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1412879227 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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