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
RS146024732 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype
RS146025130 CFHR5 Health Risk Conflicting classifications of pathogenicity —
RS1460258176 FLCN Health Risk Conflicting classifications of pathogenicity Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
RS146025958 GP9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Thrombocytopenia
RS1460260015 NAGLU Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2V
RS146026019 CYP4F22 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 5, Inborn genetic diseases
RS1460272243 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS146027258 CRLF1 Health Risk Conflicting classifications of pathogenicity —
RS146027425 PNPO Health Risk Pathogenic/Likely pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS146027667 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS1460276679 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1460278489 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS146028040 ABHD12 Health Risk Conflicting classifications of pathogenicity ABHD12-related disorder, ABHD12-related disorder
RS146029947 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS1460304955 F7 Health Risk Likely pathogenic F7-related disorder, F7-related disorder
RS146030669 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS146030837 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146031219 TET2 Health Risk Conflicting classifications of pathogenicity TET2-related disorder, TET2-related disorder
RS146031838 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS146034461 ERCC6L2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1460351219 MCM9 Health Risk Conflicting classifications of pathogenicity —
RS146035171 COL1A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, Osteogenesis imperfecta type I
RS1460356604 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS146036025 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Transcobalamin II deficiency
RS1460362157 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1460365350 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1460366599 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS146036912 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS1460371555 GORAB Health Risk Pathogenic —
RS146038948 RBP3 Health Risk Conflicting classifications of pathogenicity —
RS146039146 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1460396340 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1460396716 LRP5 Health Risk Pathogenic/Likely pathogenic 6 conditions, 6 conditions
RS1460397656 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1460409474 WDR19 Health Risk Likely pathogenic Cranioectodermal dysplasia 4, Cranioectodermal dysplasia 4
RS146040966 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS146041189 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, AGL-related disorder
RS146042172 THSD4 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS146042595 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS146043988 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cockayne syndrome type 2
RS146044217 GHR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146044644 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS146044717 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS146045718 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS146045906 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS146046068 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ABCG8-related disorder
RS146046236 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS146046296 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Mendelian syndromes with cleft lip/palate
RS146046742 HARS2 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 2, Perrault syndrome 2
RS1460472883 USH2A Health Risk Pathogenic —
RS146047560 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS146047781 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Proteinuria
RS146047900 CHSY1 Health Risk Conflicting classifications of pathogenicity Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
RS146048019 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS1460482736 TUBGCP6 Health Risk Likely pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS146048493 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal adenoma
RS146048924 HSPG2 Health Risk Pathogenic —
RS146049063 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS146049556 MTOR Health Risk Conflicting classifications of pathogenicity —
RS146049908 DRC1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Inborn genetic diseases
RS146049960 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS146050361 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1460508423 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1460509686 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS146051262 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS146051391 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype
RS1460517643 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 10
RS146052054 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS146053143 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS146053621 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS146053705 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS146054214 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS146054276 SLC34A3 Health Risk Conflicting classifications of pathogenicity —
RS146054348 C2;CFB Health Risk Conflicting classifications of pathogenicity Complement component 2 deficiency, Age related macular degeneration 14
RS1460544928 FBP1 Health Risk Likely pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS146054564 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS146054765 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
RS146055367 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS146055867 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS146055899 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS146056286 MC4R Health Risk Conflicting classifications of pathogenicity Obesity, Obesity
RS1460568494 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS146057575 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS1460597472 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1460598011 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1460602961 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1460604134 PROM1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, PROM1-related disorder
RS1460604173 PKD1 Health Risk Pathogenic —
RS146060800 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146061085 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146061247 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS1460614597 RINT1 Health Risk Pathogenic —
RS1460617795 PCNT Health Risk Pathogenic —
RS146062039 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS146062161 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Severe early-childhood-onset retinal dystrophy
RS1460624416 BLTP1 Health Risk Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS146062488 CHD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146063673 ISG15 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
RS146063718 FLNC Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, FLNC-related disorder
RS146063801 SRPX2 Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, Rolandic epilepsy
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