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
RS755579388 SLC1A1 Health Risk Likely pathogenic Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability
RS755579580 TRPM1 Health Risk Pathogenic —
RS755580814 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS755582766 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS755583135 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS755583250 FLNC Health Risk Pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS755584106 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS755585430 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS755585640 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755586334 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS755586631 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS755587601 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS755587950 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS755588045 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS755589190 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS755589533 SLC26A3 Health Risk Likely pathogenic —
RS755590047 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS755591790 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS755591829 FUS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 6
RS755591966 CDK5RAP2 Health Risk Likely pathogenic —
RS75559353 CNNM4 Health Risk Pathogenic/Likely pathogenic Jalili syndrome, Jalili syndrome
RS755594972 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS755595060 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755595128 ERCC5 Health Risk Pathogenic —
RS755595256 PLPBP Health Risk Pathogenic Epilepsy, early-onset
RS755595336 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755596079 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS755596256 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS755599243 RP1L1 Health Risk Pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS755600323 ITGB2 Health Risk Pathogenic —
RS755601552 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS755601799 USH1C Health Risk Pathogenic —
RS755601885 B3GAT3 Health Risk Pathogenic Larsen-like syndrome, B3GAT3 type
RS755604487 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS755604671 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS755607090 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS755608387 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, CCBE1-related disorder
RS755608537 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS755609198 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS755609496 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS755610701 TTN Health Risk Conflicting classifications of pathogenicity —
RS755610740 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS755612674 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Inborn genetic diseases
RS755613281 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS755613828 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, GSDME-related disorder
RS755614529 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Sick sinus syndrome 2
RS755615425 RIPK1 Health Risk Conflicting classifications of pathogenicity RIPK1-related disorder, Inborn genetic diseases
RS755616266 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS755619812 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS755620019 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS755620037 TSPAN12 Health Risk Pathogenic —
RS755620051 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS755621140 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS755622 MIF Health Risk risk factor -, -
RS755622688 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS755623798 NUMA1 Health Risk Pathogenic Myoepithelial tumor, Myoepithelial tumor
RS755624074 SEC23B Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II
RS755624411 MPV17 Health Risk Pathogenic —
RS755625628 CBS Health Risk Pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS755625888 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS755626994 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS755627156 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS755627444 CSF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755628262 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS755628334 SKIC3 Health Risk Conflicting classifications of pathogenicity —
RS755630903 SPTA1 Health Risk Pathogenic Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS755631456 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS755633330 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS755634856 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS755634872 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS755635209 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS755635372 GATAD2B Health Risk Conflicting classifications of pathogenicity —
RS755635967 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS755635993 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS755640019 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS755640269 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS755640305 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS755640785 BCAT2 Health Risk Pathogenic/Likely pathogenic Hypervalinemia and hyperleucine-isoleucinemia, Hypervalinemia and hyperleucine-isoleucinemia
RS755643283 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS755643402 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS755644971 MID1 Health Risk Conflicting classifications of pathogenicity X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS755646290 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS755646665 TRMU Health Risk Pathogenic/Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS755646683 CHD8 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS755646937 TBK1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS755647054 MPV17 Health Risk Conflicting classifications of pathogenicity —
RS755647308 ABCB11 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS755648887 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS755649235 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, COL4A4-related disorder
RS755649252 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755650000 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS755651388 MICU1 Health Risk Pathogenic/Likely pathogenic MICU1-related disorder, Proximal myopathy with extrapyramidal signs
RS755651498 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS755651886 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS755653150 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Hypoprebetalipoproteinemia
RS755653330 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS755653914 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS755653922 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS755653950 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS755654519 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
« Prev 1 ... 3286 3287 3288 3289 3290 3291 3292 ... 4509 Next »

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

Get Started Free →