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
RS201876362 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Inborn genetic diseases
RS201876507 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Inborn genetic diseases
RS201876616 DTHD1 Health Risk Conflicting classifications of pathogenicity —
RS201876794 FSIP2 Health Risk Conflicting classifications of pathogenicity FSIP2-related disorder, FSIP2-related disorder
RS201877358 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS201877439 KRIT1 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation, Inborn genetic diseases
RS201877440 ACADSB Health Risk Pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS201877485 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder
RS201877942 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS201877943 PACS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS201878233 GOLGA2 Health Risk Pathogenic/Likely pathogenic Developmental delay with hypotonia, myopathy
RS201878481 GPSM2 Health Risk Conflicting classifications of pathogenicity Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS201878539 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart
RS201878591 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS2018787057 ZNF341 Health Risk Pathogenic —
RS201879417 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS201879957 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS201880122 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS201880162 FPR1 Health Risk Conflicting classifications of pathogenicity Gingival disorder, Gingival disorder
RS201880593 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS201880756 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiovascular phenotype
RS201880805 TELO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201881479 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS201881549 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201881567 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS201881755 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS201882173 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS201882609 TMEM38B Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 14, Osteogenesis imperfecta
RS201882686 DRP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS201882909 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS201882973 DRD3 Health Risk Conflicting classifications of pathogenicity DRD3-related disorder, DRD3-related disorder
RS201883128 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS201883464 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS201883474 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS201883601 AIPL1 Health Risk Likely pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis
RS201884654 CC2D1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS201884756 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome, Cowden syndrome 5
RS201884768 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201884779 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS201884883 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS201884886 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS201885483 CASC21 Health Risk association Familial prostate cancer, Familial prostate cancer
RS201885528 ATP8B1 Health Risk Conflicting classifications of pathogenicity ATP8B1-related disorder, ATP8B1-related disorder
RS201886018 MYSM1 Health Risk Likely pathogenic Bone marrow failure syndrome 4, MYSM1-related disorder
RS201886024 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS201886262 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Inborn genetic diseases
RS201886318 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS201886728 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS201886752 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS201886827 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS201886956 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS201887525 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 2
RS201887670 ASPA Health Risk Likely pathogenic Canavan Disease, Familial Form
RS201887920 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS201888075 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS201888323 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS201888333 OTOF Health Risk Conflicting classifications of pathogenicity —
RS201888442 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS201888478 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS201888532 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS201888760 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201888844 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS201888856 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Type 2 diabetes mellitus
RS201889290 ABCG5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Sitosterolemia 2
RS201889294 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome
RS201889708 TSHR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypothyroidism due to TSH receptor mutations
RS201889779 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS201890077 SCN9A Health Risk Conflicting classifications of pathogenicity Paroxysmal extreme pain disorder, Primary erythromelalgia
RS201890095 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS201890097 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS201890491 LORICRIN Health Risk Conflicting classifications of pathogenicity —
RS201890748 TRPM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201891015 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS201891227 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Sarcotubular myopathy
RS201891311 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS201891353 FOXC1 Health Risk Likely pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS201891953 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS201892240 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201892348 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS201892419 B4GAT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
RS201892477 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS201892503 CDC45 Health Risk Conflicting classifications of pathogenicity CDC45-related disorder, CDC45-related disorder
RS201892814 CAPN3 Health Risk Pathogenic 8 conditions, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS201892914 MYO7A Health Risk Pathogenic Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS201893408 TMEM67 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 11, Joubert syndrome 6
RS201893489 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, OBSL1-related disorder
RS201893545 IMPG2 Health Risk Conflicting classifications of pathogenicity Vitelliform macular dystrophy 5, Retinitis pigmentosa
RS201893637 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, Inborn genetic diseases
RS201894078 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS201894145 DNM1L Health Risk Conflicting classifications of pathogenicity —
RS201894374 UGDH Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS201894536 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS201894544 TCTN1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS201894731 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS201895089 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss
RS201895474 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS201896088 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS201896149 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS201896586 OPTN Health Risk Conflicting classifications of pathogenicity Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12
RS201896662 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
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