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
RS367799134 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS367799231 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS367799271 PLD1 Health Risk Conflicting classifications of pathogenicity Cardiac valvular defect, developmental
RS367800414 HGF Health Risk Conflicting classifications of pathogenicity —
RS367800491 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS367800789 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS367802842 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS367803009 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS367803197 PEX3 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 10A (Zellweger), Peroxisome biogenesis disorder 10A (Zellweger)
RS367803262 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Inborn genetic diseases
RS367804502 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS367804791 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS367805575 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS367805648 POU3F4 Health Risk Conflicting classifications of pathogenicity —
RS367806541 COL2A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 1, Type 2 collagenopathy
RS367806628 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS367807381 TMC8 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS367808541 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS367809676 TNNI3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7
RS367809750 NSD1 Health Risk Pathogenic —
RS367809905 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS367810594 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS367810877 WDR35 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS367812436 ECE1 Health Risk Likely pathogenic Hirschsprung disease, cardiac defects
RS367814426 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS367814475 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS367814655 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, ITPR1-related disorder
RS367816013 APC Health Risk Conflicting classifications of pathogenicity APC-Associated Polyposis Disorders, Hereditary cancer-predisposing syndrome
RS367816094 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS367816363 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS367816430 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, G6PC1-related disorder
RS367816473 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS367816483 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS367817034 COQ6 Health Risk Likely pathogenic Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS367817352 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS367818536 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS367819045 NOD2 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome
RS367819390 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
RS367820987 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS367821526 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS367822021 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
RS367822877 CPOX Health Risk Conflicting classifications of pathogenicity Hereditary coproporphyria, CPOX-related hereditary coproporphyria
RS367823201 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS367823977 BCKDHA Health Risk Conflicting classifications of pathogenicity —
RS367824632 COL11A1 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal dominant 37
RS367824771 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS367825691 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS367826075 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS367826177 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS367826445 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS367826825 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS367827093 ALOXE3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS367829184 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS367830465 IARS1 Health Risk Conflicting classifications of pathogenicity —
RS367830780 SPATA7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 3
RS367831580 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS367832579 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS367832752 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS367833330 KDM5B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 65
RS367833503 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
RS367833709 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Congenital adrenal hyperplasia
RS367833904 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS367835995 TINF2 Health Risk Conflicting classifications of pathogenicity Revesz syndrome, Dyskeratosis congenita
RS367837942 CHRND Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS367838230 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS367838293 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS367838299 C1QC Health Risk Conflicting classifications of pathogenicity C1Q deficiency, C1Q deficiency
RS367838375 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS367839100 ABCA4 Health Risk Pathogenic Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy
RS367840492 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS367840862 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS367841049 COL18A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367841359 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS367841692 SPTB Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 2, SPTB-related disorder
RS367841700 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS367842487 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367843558 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS367843919 RMRP Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, Anauxetic dysplasia
RS367844535 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS367844999 AGK Health Risk Conflicting classifications of pathogenicity Cataract 38, Mitochondrial disease
RS367846125 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS367846829 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS367848023 CAMTA1 Health Risk Conflicting classifications of pathogenicity —
RS367848204 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS367849518 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, ANKRD26-related disorder
RS367850319 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS367850779 ABCC8 Health Risk Pathogenic/Likely pathogenic Familial hyperinsulinism, Hereditary hyperinsulinism
RS367850837 PLPBP Health Risk Conflicting classifications of pathogenicity Epilepsy, early-onset
RS367850936 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS367851471 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS367852554 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, Ovarian serous cystadenocarcinoma
RS367852951 DLL1 Health Risk Pathogenic —
RS367853629 MVK Health Risk Conflicting classifications of pathogenicity Mevalonic aciduria, Porokeratosis 3
RS367854582 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS367855127 PSEN2 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 4, Dilated cardiomyopathy 1V
RS367855925 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS367856134 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Inborn genetic diseases
RS367857040 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS367857088 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS367857273 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
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