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
RS2505491093 FBN1 Health Risk Pathogenic Progeroid and marfanoid aspect-lipodystrophy syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome
RS2505491185 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505491360 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505491435 FBN1 Health Risk Likely pathogenic —
RS2505493108 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505493145 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505493220 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505493243 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505493264 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505493402 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505493415 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505493513 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505493582 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505494071 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS2505495311 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS2505495374 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505495426 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505495592 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505495637 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505495712 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505495794 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505496871 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505496914 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505497007 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505497067 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505497113 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505497576 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505497751 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505498070 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS2505499561 KIF7 Health Risk Likely pathogenic KIF7-related disorder, KIF7-related disorder
RS2505500550 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS2505501053 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505501205 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505501210 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505501266 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505501329 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505501369 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505501450 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505501452 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505501577 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505501580 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505501802 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505501858 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505501994 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505502113 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505502305 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505502773 KIF7 Health Risk Likely pathogenic KIF7-related disorder, KIF7-related disorder
RS2505502960 FBN1 Health Risk Pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS2505502965 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505503057 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505503068 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505503134 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505503180 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505503296 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505508252 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505508421 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505508693 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505509206 ANK2 Health Risk Likely pathogenic ANK2-related disorder, ANK2-related disorder
RS2505511536 TBC1D24 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 16
RS2505512094 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505512832 TBC1D24 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS2505512946 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505513004 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505513095 TBC1D24 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS2505513248 TBC1D24 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS2505513326 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505513372 TBC1D24 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2505513376 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505513456 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505513548 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505513738 TBC1D24 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2505513777 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505513797 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505514584 TBC1D24 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS2505514642 IGF1R Health Risk Pathogenic —
RS2505515437 TBC1D24 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS2505515664 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505515698 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505515903 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505516000 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505516147 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505516486 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505516519 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505516720 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505517110 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505517344 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505517444 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505517524 FBN1 Health Risk Likely pathogenic —
RS2505517554 FBN1 Health Risk Pathogenic —
RS2505517602 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505517919 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505517949 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505518445 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505518455 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505518741 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505518809 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505518828 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505518875 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505518986 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505519057 FBN1 Health Risk Likely pathogenic —
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