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
RS2540810434 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2540813559 PAK1 Health Risk Likely pathogenic PAK1-related disorder, PAK1-related disorder
RS2540830069 PAK1 Health Risk Likely pathogenic PAK1-related disorder, PAK1-related disorder
RS2540830299 PAK1 Health Risk Likely pathogenic Intellectual developmental disorder with macrocephaly, seizures
RS2540837488 SMARCC2 Health Risk Pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS2540854316 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2540862725 PUS1 Health Risk Pathogenic —
RS2540862808 PUS1 Health Risk Pathogenic/Likely pathogenic Myopathy, lactic acidosis
RS2540869203 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2540869432 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2540870135 PUS1 Health Risk Likely pathogenic Myopathy, lactic acidosis
RS2540870148 PUS1 Health Risk Pathogenic —
RS2540870188 PUS1 Health Risk Pathogenic Myopathy, lactic acidosis
RS2540870199 PUS1 Health Risk Likely pathogenic Myopathy, lactic acidosis
RS2540870223 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2540870266 PUS1 Health Risk Pathogenic —
RS2540870275 PUS1 Health Risk Pathogenic —
RS2540870285 PUS1 Health Risk Pathogenic —
RS2540870303 PUS1 Health Risk Likely pathogenic Myopathy, lactic acidosis
RS2540872758 PUS1 Health Risk Likely pathogenic Myopathy, lactic acidosis
RS2540872831 PUS1 Health Risk Pathogenic —
RS2540873106 PUS1 Health Risk Pathogenic —
RS2540873281 PUS1 Health Risk Pathogenic —
RS2540873437 PUS1 Health Risk Pathogenic —
RS2540873492 PUS1 Health Risk Likely pathogenic Myopathy, lactic acidosis
RS2540873523 PUS1 Health Risk Likely pathogenic Myopathy, lactic acidosis
RS2540873585 PUS1 Health Risk Likely pathogenic Myopathy, lactic acidosis
RS2540873599 PUS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS2540873640 PUS1 Health Risk Pathogenic —
RS2540874019 PUS1 Health Risk Likely pathogenic PUS1-related disorder, Myopathy
RS2540881892 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2540882312 FANCC Health Risk Likely pathogenic —
RS2540882734 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2540882833 ATP2B1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2540882993 SMARCC2 Health Risk Pathogenic —
RS2540883016 MYRF Health Risk Pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS2540883356 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2540883406 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2540884610 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2540886440 FANCC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2540886717 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2540887710 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS2540887817 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2540888580 FANCC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2540889666 ACBD5 Health Risk Likely pathogenic —
RS2540892544 MYRF Health Risk Pathogenic MYRF-related disorder, MYRF-related disorder
RS2540896084 SMARCC2 Health Risk Likely pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS2540898617 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2540899502 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2540899815 SPTAN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 5
RS25409 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS2540900727 SMARCC2 Health Risk Likely pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS2540900784 SMARCC2 Health Risk Pathogenic —
RS2540901234 SMARCC2 Health Risk Likely pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS2540901407 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2540901723 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2540914599 CYP27B1 Health Risk Pathogenic —
RS2540915025 CYP27B1 Health Risk Pathogenic —
RS2540915033 CYP27B1 Health Risk Pathogenic —
RS2540915557 CYP27B1 Health Risk Pathogenic —
RS2540915931 CYP27B1 Health Risk Pathogenic —
RS2540915933 CYP27B1 Health Risk Pathogenic —
RS2540916075 CYP27B1 Health Risk Pathogenic —
RS2540916709 CYP27B1 Health Risk Pathogenic —
RS2540916726 CYP27B1 Health Risk Likely pathogenic —
RS2540916851 CYP27B1 Health Risk Pathogenic —
RS2540917035 CYP27B1 Health Risk Pathogenic —
RS2540917266 SMARCC2 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS2540917461 CYP27B1 Health Risk Pathogenic —
RS2540917506 CYP27B1 Health Risk Pathogenic —
RS2540917603 CYP27B1 Health Risk Pathogenic —
RS2540919542 CYP27B1 Health Risk Pathogenic Vitamin D-dependent rickets, type 1A
RS2540924412 SMARCC2 Health Risk Pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS2540924441 SMARCC2 Health Risk Pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS2540929867 MYRF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2540930253 MYRF Health Risk Likely pathogenic MYRF-related disorder, MYRF-related disorder
RS2540930729 SPTAN1 Health Risk Pathogenic —
RS2540935832 SMARCC2 Health Risk Pathogenic —
RS2540942755 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS2540942894 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS2540942936 TSFM Health Risk Pathogenic —
RS2540943012 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS2540943113 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS2540943169 TSFM Health Risk Pathogenic —
RS2540943259 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS2540943285 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS2540946087 MYRF Health Risk Likely pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS2540948158 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
RS2540948320 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2540948713 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2540949104 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS2540949341 TSFM Health Risk Pathogenic —
RS2540949362 MYRF Health Risk Likely pathogenic MYRF-related disorder, MYRF-related disorder
RS2540949591 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2540950794 TSFM Health Risk Pathogenic —
RS2540950814 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS2540951027 TSFM Health Risk Pathogenic —
RS2540953908 MYRF Health Risk Pathogenic Encephalitis/encephalopathy, mild
RS2540954215 MYRF Health Risk Conflicting classifications of pathogenicity Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS2540954236 MYRF Health Risk Likely pathogenic MYRF-related disorder, MYRF-related disorder
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