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
RS771117943 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS771120179 PRRC2B Health Risk Conflicting classifications of pathogenicity —
RS771120250 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS771121666 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Inborn genetic diseases
RS771126203 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 26, Retinitis pigmentosa
RS771126523 PHIP Health Risk Pathogenic/Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, See cases
RS771126636 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS771126735 NCF2 Health Risk Likely pathogenic Granulomatous disease, chronic
RS771126920 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771127702 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS771128441 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS771129715 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS771130127 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS771130240 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Inborn genetic diseases
RS771131526 KYNU Health Risk Pathogenic/Likely pathogenic Congenital NAD deficiency disorder, Vertebral
RS771131709 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS771132013 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS771132137 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases
RS771134176 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS771134832 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS77113494 NDUFS3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 8
RS771135962 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS771136225 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS771136390 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS771137827 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS771138120 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS771138153 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS771138989 RNF168 Health Risk Pathogenic —
RS771139087 LEP Health Risk Pathogenic Obesity due to congenital leptin deficiency, Obesity due to congenital leptin deficiency
RS771139732 COL1A2 Health Risk Conflicting classifications of pathogenicity 6 conditions, Ehlers-Danlos syndrome
RS771142025 PKLR Health Risk Pathogenic —
RS771142611 TNFRSF9 Health Risk Pathogenic/Likely pathogenic —
RS771143648 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS771145576 PKLR Health Risk Pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS771145682 PUM1 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 47, Late-onset spinocerebellar ataxia
RS771146489 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS771146636 COL5A1 Health Risk Conflicting classifications of pathogenicity Abnormal bleeding, Ehlers-Danlos syndrome
RS771146873 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS771148519 WDR19 Health Risk Pathogenic Cranioectodermal dysplasia, Senior-Loken syndrome 8
RS771148614 PDE6B Health Risk Pathogenic —
RS771150854 STAMBP Health Risk Pathogenic Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS771151036 NAGLU Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS771152796 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS771153009 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS771155956 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS771156053 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, Sialic acid storage disease
RS771156648 HNF4A Health Risk Pathogenic Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS771157135 GRIN2B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 27
RS771157170 PIGT Health Risk Pathogenic/Likely pathogenic PIGT-related disorder, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS771157811 TAPBP Health Risk Conflicting classifications of pathogenicity MHC class I deficiency, MHC class I deficiency 1
RS771158339 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS771159212 FLVCR1 Health Risk Conflicting classifications of pathogenicity —
RS771160155 DPYS Health Risk Pathogenic Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
RS771160630 EOGT Health Risk Pathogenic Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
RS771162235 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS771163176 PDZD7 Health Risk Pathogenic PDZD7-related disorder, PDZD7-related disorder
RS771163929 AAAS Health Risk Likely pathogenic —
RS771164401 CYP11B2 Health Risk Pathogenic Corticosterone methyl oxidase type II deficiency, Corticosterone methyl oxidase type II deficiency
RS771168246 CC2D1A Health Risk Pathogenic —
RS771168389 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS771168491 PABIR3 Health Risk Conflicting classifications of pathogenicity —
RS771168522 TET2 Health Risk Likely pathogenic TET2-related disorder, TET2-related disorder
RS771168722 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5
RS771169398 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS771169423 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS771170000 B9D1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 27
RS771172229 LOX Health Risk Pathogenic —
RS771172788 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS771172885 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS771173251 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS771174392 DNMT3A Health Risk Likely pathogenic Acute myeloid leukemia, Tatton-Brown-Rahman overgrowth syndrome
RS771174697 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771177317 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS771179943 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome
RS771180054 SNTA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Becker muscular dystrophy
RS771180444 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS771181525 MYH3 Health Risk Conflicting classifications of pathogenicity —
RS771182933 CEP57 Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 2, Mosaic variegated aneuploidy syndrome 2
RS771182936 MPV17 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS771185259 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS771186380 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS771186417 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS771187817 PLD1 Health Risk Pathogenic —
RS771188512 CASQ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2
RS771188543 COL17A1 Health Risk Pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS771190188 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS771192120 MAT1A Health Risk Likely pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS771192755 LMNA Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2
RS771193813 KCNV2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771195871 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS771196330 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia
RS771196625 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS771196681 RPS26 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
RS771198568 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Inborn genetic diseases
RS771200821 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS771201500 LHX3 Health Risk Conflicting classifications of pathogenicity Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS771201679 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS771201777 HARS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Charcot-Marie-Tooth disease type 2W, Usher syndrome type 3B
RS771202761 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Inborn genetic diseases
RS771203198 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
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