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
RS1026405158 CERKL Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 26
RS1026418716 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1026422272 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS1026427970 CNGB3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1026438103 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1026474882 PNP Health Risk Pathogenic/Likely pathogenic Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease
RS1026511416 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1026514423 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1026521515 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS1026525677 TGM6 Health Risk Likely pathogenic TGM6-related disorder, TGM6-related disorder
RS1026553102 STAG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1026599240 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS1026613471 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, COL4A4-related disorder
RS1026621473 GABRB2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS1026632436 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1026649081 TTN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1026657804 SERPING1 Health Risk Conflicting classifications of pathogenicity Angioedema, Angioedema
RS1026664479 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS1026678745 ARID1A Health Risk Likely pathogenic ARID1A-related disorder, Ependymoma
RS1026685248 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS1026697162 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1026703654 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1026724985 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1026743380 SLC39A7 Health Risk Likely pathogenic Agammaglobulinemia 9, autosomal recessive
RS1026811783 OCA2 Health Risk Pathogenic/Likely pathogenic —
RS1026816105 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS10268251 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1026833196 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1026913794 LMBRD1 Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS1026930115 SHOC2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 3, RASopathy
RS1026933314 CERT1 Health Risk Conflicting classifications of pathogenicity —
RS10269832 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1026995892 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS1027015345 AASS Health Risk Likely pathogenic —
RS1027020354 DMP1 Health Risk Pathogenic —
RS1027029347 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1027052344 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS1027058734 NR3C1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid resistance, Glucocorticoid resistance
RS1027079885 MYRF Health Risk Likely pathogenic Congenital diaphragmatic hernia, Heart
RS1027090051 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1027128618 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1027145211 DYSF Health Risk Pathogenic —
RS1027186100 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1027231153 SLC52A3 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases
RS1027249002 TBK1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS1027280601 CEBPA Health Risk Conflicting classifications of pathogenicity —
RS1027282554 COL4A3 Health Risk Pathogenic —
RS1027289865 LGI1 Health Risk Pathogenic Autosomal dominant epilepsy with auditory features, Epilepsy
RS1027334963 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1027351084 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS1027354479 HEPACAM Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts
RS1027368517 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1027370764 C9 Health Risk Pathogenic/Likely pathogenic Age related macular degeneration 15, Complement component 9 deficiency
RS1027420142 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1027429746 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS10274334 PKD1L1 Health Risk Conflicting classifications of pathogenicity —
RS1027487149 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
RS1027492078 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1027499310 SON Health Risk Conflicting classifications of pathogenicity —
RS1027503096 IL10RA Health Risk Pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS1027558772 DCDC2 Health Risk Conflicting classifications of pathogenicity Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66
RS1027582142 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS1027596623 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS1027603469 PIEZO1 Health Risk Pathogenic/Likely pathogenic PIEZO1-related disorder, PIEZO1-related disorder
RS1027609786 FRAS1 Health Risk Conflicting classifications of pathogenicity —
RS1027674181 CC2D2A Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1027677934 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1027702347 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS1027714006 MFN2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1027769042 COL9A3 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS1027776486 HECW2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1027790661 SLC25A36 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS1027814542 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS1027822378 GRHL2 Health Risk Likely pathogenic —
RS1027833102 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1027855768 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1027902743 POGZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1027921042 MYH2 Health Risk Pathogenic Myopathy, proximal
RS1027959208 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1028029163 QDPR Health Risk Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS1028039505 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1028050037 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1028072654 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype
RS1028079499 STAT2 Health Risk Likely pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS1028098148 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1028099185 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1028163227 DONSON Health Risk Conflicting classifications of pathogenicity DONSON-related Meier-Gorlin syndrome, Meier-Gorlin syndrome
RS1028165414 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS1028186690 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, Medulloblastoma WNT activated
RS1028187089 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS1028234458 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS1028247729 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS1028250483 SEMA4A Health Risk Conflicting classifications of pathogenicity —
RS1028292080 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1028293945 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1028335528 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1028347439 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1028370381 GJB3 Health Risk Likely pathogenic —
RS1028371302 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1028371920 CNGB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 45
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