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
RS770887047 IMPG1 Health Risk Likely pathogenic Benign concentric annular macular dystrophy, Vitelliform macular dystrophy 4
RS770887258 ECHDC1 Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS770888294 COL11A2 Health Risk Conflicting classifications of pathogenicity Larsen-like syndrome, B3GAT3 type
RS770888477 ADCY10 Health Risk Pathogenic/Likely pathogenic —
RS770889364 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS770889681 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Lung cancer
RS770890983 IFT140 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Saldino-Mainzer syndrome
RS770891152 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS770892393 OTOA Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS770894315 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, MARVELD2-related disorder
RS770894429 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS770894443 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS770895110 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS770895341 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS770895919 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS770897158 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS770898096 RNASEH2A Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4, Inborn genetic diseases
RS770898814 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS770900468 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS770901638 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS770902874 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS770903362 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS770904422 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS770904586 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS770904787 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS770905160 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS770906277 GTPBP3 Health Risk Likely pathogenic See cases, See cases
RS770907704 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS770907731 MYH6 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS770908172 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS770908238 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS770908481 STAG3 Health Risk Likely pathogenic STAG3-related disorder, STAG3-related disorder
RS770908659 MKKS Health Risk Pathogenic/Likely pathogenic Multicystic kidney dysplasia, Polycystic kidney disease
RS770908923 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS770909166 USP53 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS770909247 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS770910232 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Inborn genetic diseases
RS770910910 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS770910923 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS770911238 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS770912292 KCNH1 Health Risk Conflicting classifications of pathogenicity —
RS770913157 SETD1A Health Risk Pathogenic Schizophrenia, Schizophrenia
RS770913202 RSPH9 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 12, Primary ciliary dyskinesia
RS770913203 FLNC Health Risk Pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS770913562 VPS16 Health Risk Likely pathogenic See cases, See cases
RS77091385 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS770915022 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS770915641 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS770916034 EARS2 Health Risk Likely pathogenic —
RS770917710 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS770917728 OTOGL Health Risk Likely pathogenic —
RS770918273 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS770919400 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS770920210 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome 3b
RS770921101 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS770921270 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS770921333 ROR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Brachydactyly type B1
RS770921703 ABCB6 Health Risk Conflicting classifications of pathogenicity ABCB6-related disorder, ABCB6-related disorder
RS770923196 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS770925697 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS770925902 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS770925947 ERCC3 Health Risk Conflicting classifications of pathogenicity Trichothiodystrophy 2, photosensitive
RS770926082 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS770927461 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
RS770927552 TYK2 Health Risk Pathogenic Immunodeficiency 35, Immunodeficiency 35
RS770929631 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS770930910 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS770931044 NARS1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with microcephaly, impaired language
RS770931075 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pyridoxine-dependent epilepsy
RS770931503 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770931836 ACTA1 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion, Familial restrictive cardiomyopathy
RS770931871 ECHS1 Health Risk Pathogenic/Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS770932012 AQP2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS770932296 HEXA Health Risk Conflicting classifications of pathogenicity GM2-GANGLIOSIDOSIS, CHRONIC
RS770933211 NFKBIA Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases
RS770933323 RAB3GAP1 Health Risk Conflicting classifications of pathogenicity —
RS770933347 ACADSB Health Risk Conflicting classifications of pathogenicity Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS770933647 LZTR1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 2, Hereditary cancer-predisposing syndrome
RS770933834 MYH6 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14
RS770933972 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS770934386 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS770934436 GLRB Health Risk Pathogenic Hyperekplexia 2, Hyperekplexia 2
RS770935301 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS770936644 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Inborn genetic diseases
RS770936849 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS770936919 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS770936974 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS770937339 PEX10 Health Risk Pathogenic/Likely pathogenic Spastic ataxia, Peroxisome biogenesis disorder
RS770937516 NR2E3 Health Risk Conflicting classifications of pathogenicity Atypical retinitis pigmentosa, Atypical retinitis pigmentosa
RS770938921 GRHL3 Health Risk Conflicting classifications of pathogenicity Van der Woude syndrome 1, Van der Woude syndrome 1
RS770939212 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770940649 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS770941671 NDUFAF3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS770942162 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS770943260 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS770944322 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS770944877 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS770945288 MYH2 Health Risk Likely pathogenic Myopathy, proximal
RS770946058 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS770946088 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
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