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
RS1597513708 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597515555 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1597516325 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597516347 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597516501 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597516509 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597517771 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597517858 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597517925 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597517935 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597517970 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597518019 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1597518038 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597518081 FBN1 Health Risk Pathogenic —
RS1597518796 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597518951 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597518954 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1597519658 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597520263 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS1597520619 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597520625 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597520683 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597520781 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597520789 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597522390 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597522415 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597522485 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597522553 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597522557 FBN1 Health Risk Likely pathogenic —
RS1597522572 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597522584 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597522588 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597523768 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597523873 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597524963 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1597525249 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1597525536 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1597525871 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597525958 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597526073 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597526729 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597526782 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1597527946 COX10 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS1597529686 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597529748 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597529775 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597529826 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597529829 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597529841 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597531796 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597532579 FBN1 Health Risk Likely pathogenic —
RS1597533619 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597533706 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597533707 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597533713 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597533847 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1597534120 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1597534677 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1597534796 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1597535277 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1597535300 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597535305 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597537351 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Ovarian serous cystadenocarcinoma
RS1597537698 FBN1 Health Risk Likely pathogenic —
RS1597537815 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597537835 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597537858 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597537935 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597539537 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1597540854 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597540907 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597540923 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597543486 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597545199 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597545230 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597545257 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597545309 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597545345 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597545836 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597546984 FBN1 Health Risk Conflicting classifications of pathogenicity —
RS1597547030 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597547075 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597547226 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597548672 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597548716 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597548734 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597552140 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS1597552388 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597552583 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597553721 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597554086 FBN1 Health Risk Likely pathogenic —
RS1597556143 FA2H Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 35, Spastic paraplegia
RS1597556369 ALDH3A2 Health Risk Likely pathogenic —
RS1597558200 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS1597558920 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597559048 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597559669 GALNS Health Risk Pathogenic —
RS1597562609 CNOT1 Health Risk Pathogenic/Likely pathogenic See cases, Vissers-Bodmer syndrome
RS1597562812 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597562926 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
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