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
RS1292115878 DENND5A Health Risk Pathogenic —
RS1292147160 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1292160956 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1292183482 GLDC Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS1292201259 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS1292204269 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1292210350 COQ8B Health Risk Pathogenic —
RS1292231609 LAMB1 Health Risk Conflicting classifications of pathogenicity Cobblestone lissencephaly without muscular or ocular involvement, Cobblestone lissencephaly without muscular or ocular involvement
RS1292239409 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1292246271 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1292248431 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
RS1292267151 F5 Health Risk Likely pathogenic F5-related disorder, F5-related disorder
RS1292283693 KIAA1549 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1292294409 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1292326578 RNPC3 Health Risk Likely pathogenic Isolated growth hormone deficiency, type 5
RS1292339242 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1292344717 OPLAH Health Risk Pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS1292367136 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1292379905 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1292401633 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, Leukodystrophy
RS1292403369 ALDH18A1 Health Risk Likely pathogenic Autosomal dominant spastic paraplegia type 9, de Barsy syndrome
RS1292407171 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1292415045 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Childhood hypophosphatasia
RS1292452485 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1292456827 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1292460656 SLC12A6 Health Risk Pathogenic/Likely pathogenic SLC12A6-related disorder, SLC12A6-related disorder
RS1292463430 ADGRG1 Health Risk Pathogenic —
RS1292477918 SKIC3 Health Risk Pathogenic —
RS1292482268 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1292516576 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 6
RS1292517709 EGFR Health Risk Likely pathogenic Lung adenocarcinoma, Lung adenocarcinoma
RS1292531971 LAMP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Danon disease
RS1292534396 COG6 Health Risk Pathogenic/Likely pathogenic COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
RS1292541006 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS1292551263 TBC1D24 Health Risk Pathogenic/Likely pathogenic 6 conditions, Developmental and epileptic encephalopathy
RS1292553472 CTNNA3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
RS1292568038 TGM1 Health Risk Pathogenic —
RS1292577132 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1292580496 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1292600354 CYP27B1 Health Risk Pathogenic —
RS1292608555 STX11 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS1292609217 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1292617227 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1292636769 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, Inborn genetic diseases
RS1292645984 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1292646768 HADH Health Risk Uncertain significance/Uncertain risk allele Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS1292663596 OBSL1 Health Risk Pathogenic/Likely pathogenic 3M syndrome 2, 3M syndrome 2
RS1292664749 ADGRV1 Health Risk Pathogenic Retinal dystrophy, ADGRV1-related disorder
RS1292667374 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1292668105 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1292670477 TNFRSF11B Health Risk Pathogenic —
RS1292672301 TWNK Health Risk Pathogenic —
RS1292684996 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1292721679 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1292724234 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1292748326 ADGRV1 Health Risk Pathogenic —
RS1292757961 DNAAF19 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 17
RS1292759098 ACOX1 Health Risk Pathogenic/Likely pathogenic Acyl-CoA oxidase deficiency, Mitchell syndrome
RS1292802544 FAM161A Health Risk Pathogenic/Likely pathogenic —
RS1292827495 USB1 Health Risk Pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS1292831710 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1292866391 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1292874452 DRAM2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1292908960 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1292921760 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1292940121 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS1292941352 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1
RS1292946504 NKX2-1 Health Risk Likely pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS1292953164 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS1292988272 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1293009471 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1293033867 SLC18A2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1293048695 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS1293077915 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1293079271 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 4
RS1293081480 SKIC2 Health Risk Pathogenic —
RS1293095681 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1293098417 EVC Health Risk Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1293099867 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS12931021 ZFHX3 Health Risk risk factor Atrial fibrillation, familial
RS1293110437 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1293118415 CDH23 Health Risk Likely pathogenic —
RS1293165449 TBCD Health Risk Pathogenic —
RS1293202153 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1293214060 COL1A1 Health Risk Conflicting classifications of pathogenicity —
RS1293215555 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1293236067 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1293245717 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1293246328 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS1293255485 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1293262938 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS1293268696 ITGB2 Health Risk Likely pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS1293271804 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS1293276034 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1293288101 BPNT2 Health Risk Pathogenic —
RS1293303410 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1293305047 PKD1 Health Risk Likely pathogenic PKD1-related disorder, Polycystic kidney disease
RS1293309607 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1293317548 AP4M1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 50, Hereditary spastic paraplegia
RS1293340864 KIFBP Health Risk Pathogenic Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
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