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
RS767744034 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Proteinuria
RS767745136 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767745816 SPATA7 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS767745850 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS767747027 TBCD Health Risk Pathogenic —
RS767747355 ERCC2 Health Risk Pathogenic Xeroderma pigmentosum, group D
RS767747378 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS767747402 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS767748011 VPS33A Health Risk Likely pathogenic Mucopolysaccharidosis-plus syndrome, Mucopolysaccharidosis-plus syndrome
RS767748655 AARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS767748856 CEP78 Health Risk Pathogenic —
RS767748953 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS767749967 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS767750936 CD55 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767751416 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS767751622 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS767751856 WDR35 Health Risk Pathogenic Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS767752968 CYP19A1 Health Risk Conflicting classifications of pathogenicity —
RS767753048 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS767753360 PKHD1L1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 124, Autosomal recessive nonsyndromic hearing loss 124
RS767754823 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS767755367 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS767755750 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS767756650 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS767757297 POT1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS767757416 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS767758073 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 10, Primary ciliary dyskinesia
RS767758218 DCLRE1C Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS767758713 SEPTIN9 Health Risk Conflicting classifications of pathogenicity —
RS767759337 TNFRSF13C Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS767760099 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS767760664 LINS1 Health Risk Likely pathogenic —
RS767760877 CFAP300 Health Risk Pathogenic Ciliary dyskinesia, primary
RS767762611 ALS2 Health Risk Likely pathogenic ALS2-related disorder, ALS2-related disorder
RS767763451 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS767765046 HSD17B3 Health Risk Pathogenic —
RS767765131 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS767765146 ASB10 Health Risk Conflicting classifications of pathogenicity —
RS767766166 TCN1 Health Risk Pathogenic Transcobalamin I deficiency, Transcobalamin I deficiency
RS767767037 DYM Health Risk Pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS767767470 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS767767573 USH1C Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS767767730 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS767768253 BUB1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS767768313 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS767768982 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS767769233 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS767769359 PRUNE1 Health Risk Pathogenic/Likely pathogenic Abnormal brain morphology, Neurodevelopmental disorder with microcephaly
RS767770242 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS767771299 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS767772613 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS767772838 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy
RS767773802 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS767774362 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS767774622 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS767774867 PGAP1 Health Risk Pathogenic Intellectual disability, autosomal recessive 42
RS767775507 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS767776322 KMT2C Health Risk Conflicting classifications of pathogenicity —
RS767777113 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS767777964 AP3D1 Health Risk Conflicting classifications of pathogenicity —
RS767778853 NAXD Health Risk Conflicting classifications of pathogenicity NAD(P)HX dehydratase deficiency, See cases
RS767779208 CYP4V2 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy
RS767779749 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS767780913 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS767781351 VARS2 Health Risk Likely pathogenic —
RS767782097 POLRMT Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
RS767782156 CEP135 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767782379 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS767782524 RASA2 Health Risk Conflicting classifications of pathogenicity —
RS767782578 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS76778263 ICOS Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS767783281 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS767784355 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS767785738 RARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RARS2-related disorder
RS767785877 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Developmental and epileptic encephalopathy
RS767786513 OTOA Health Risk Conflicting classifications of pathogenicity —
RS767787348 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS767787371 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Spinocerebellar ataxia type 15/16
RS767787774 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS767788330 WDR35 Health Risk Pathogenic/Likely pathogenic Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS767788624 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS767789270 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS767790003 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS767790285 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS767790289 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS767790696 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS767790909 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS767792289 NEXN Health Risk Conflicting classifications of pathogenicity See cases, Dilated cardiomyopathy 1CC
RS767792503 CEP85L Health Risk Likely pathogenic Lissencephaly 10, Lissencephaly 10
RS767792734 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS767793133 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS767794176 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS767794768 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Cardiovascular phenotype
RS767795266 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS767795583 ABCD4 Health Risk Pathogenic/Likely pathogenic Methylmalonic acidemia with homocystinuria, type cblJ
RS767795673 PLPBP Health Risk Pathogenic Epilepsy, early-onset
RS767796290 KAT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Genitopatellar syndrome
RS767796996 RAD51C Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS767797497 LAMA2 Health Risk Pathogenic —
RS767797828 USH2A Health Risk Pathogenic Deafness, Hearing loss
« Prev 1 ... 3484 3485 3486 3487 3488 3489 3490 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →