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
RS1233885358 TPRKB Health Risk Pathogenic Galloway-Mowat syndrome 5, Galloway-Mowat syndrome 5
RS1233891472 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1233894123 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1233923207 FRAS1 Health Risk Likely pathogenic —
RS1233939358 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS1233949819 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1233952795 TMC8 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS1233957241 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1233958373 DNM1L Health Risk Pathogenic —
RS1233958453 PFKM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VII
RS1233959733 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1233961202 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy
RS1233969418 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1233980811 ELP1 Health Risk Pathogenic —
RS1233981025 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS1233981969 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1234002716 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1234025820 ANK3 Health Risk Likely pathogenic Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS1234028937 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS1234033325 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1234034573 LOC130003092;TMEM203;TPRN Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79
RS1234036848 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1234062900 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1234064430 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1234085004 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1234096193 NBAS Health Risk Pathogenic —
RS1234099104 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1234122324 SBF1 Health Risk Conflicting classifications of pathogenicity SBF1-related disorder, SBF1-related disorder
RS1234138761 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1234153462 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS1234167788 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1234178280 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1234205940 BMPR2 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS1234238096 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS1234256852 SLC19A2 Health Risk Likely pathogenic Megaloblastic anemia, thiamine-responsive
RS1234259290 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS1234273599 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1234297037 LRPPRC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1234344050 COL3A1 Health Risk Likely pathogenic POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
RS1234354755 CBS Health Risk Pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS1234358553 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1234367830 CARMIL2 Health Risk Likely pathogenic CARMIL2-related disorder, CARMIL2-related disorder
RS1234368540 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1234372437 PLXNB2 Health Risk Pathogenic See cases, See cases
RS1234384421 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1234395996 POLE Health Risk Pathogenic —
RS1234421819 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1234435123 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1234437874 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases
RS1234449785 RYR2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1234502889 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1234560249 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1234568897 GNAT2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1234596293 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS1234599681 TMEM237 Health Risk Likely pathogenic TMEM237-related disorder, TMEM237-related disorder
RS1234617605 TYR Health Risk Likely pathogenic —
RS1234650208 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1234654104 EHMT1 Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1234694300 TRAPPC11 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1234696445 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS12347 MTRR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblE, Disorders of Intracellular Cobalamin Metabolism
RS1234701709 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1234705457 P3H2 Health Risk Likely pathogenic —
RS1234716349 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1234730026 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS1234745577 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, Sialic acid storage disease
RS1234762807 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1234764565 IPO8 Health Risk Likely pathogenic VISS syndrome, IPO8 related Connective tissue disorder
RS1234811014 OTOG Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 18B
RS1234817297 ZNF469 Health Risk Conflicting classifications of pathogenicity —
RS1234826768 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS1234832404 MYH2 Health Risk Likely pathogenic Myopathy, proximal
RS1234838549 ZNF335 Health Risk Likely pathogenic —
RS1234848212 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1234849009 CPLANE1 Health Risk Pathogenic —
RS1234850408 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1234860680 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS1234861163 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1234882220 ALS2 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 2, juvenile
RS1234882277 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1234886272 NBAS Health Risk Pathogenic —
RS1234904066 NR5A1 Health Risk Likely pathogenic —
RS1234936765 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1234956618 DRP2 Health Risk Pathogenic —
RS1234973742 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1234975047 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS1234975160 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1234997874 LRP5 Health Risk Pathogenic —
RS1234999215 RYR1 Health Risk Likely pathogenic Central core myopathy, RYR1-related disorder
RS1234999465 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1235007867 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Inborn genetic diseases
RS1235008965 PEX2 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Peroxisome biogenesis disorder 5A (Zellweger)
RS1235010442 MCM4 Health Risk Likely pathogenic Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
RS1235020687 HCN2 Health Risk risk factor Febrile seizures, familial
RS1235022794 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS1235025695 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1235035841 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1235040517 ERCC2 Health Risk Pathogenic —
RS1235042092 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1235043828 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
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