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
RS2505446577 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505446613 CHD2 Health Risk Likely pathogenic CHD2-related disorder, CHD2-related disorder
RS2505446692 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505446827 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505446917 CHD2 Health Risk Likely pathogenic —
RS2505447070 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505447089 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505447101 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS2505447123 CHD2 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2505447198 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505447228 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505447254 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505447704 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505448181 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505448975 TRIP4 Health Risk Pathogenic Centronuclear myopathy, Centronuclear myopathy
RS2505449670 LRRK1 Health Risk Pathogenic —
RS2505451768 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505451845 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505451851 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505451856 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505451901 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505451954 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505451976 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505452026 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505452084 CHD2 Health Risk Pathogenic —
RS2505452160 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505452256 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505452301 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505454170 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505454978 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505455250 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505455308 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505455435 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505455537 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505455752 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505455800 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505456377 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505456660 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505456934 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505456977 BLM Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Bloom syndrome
RS2505457118 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505457182 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505457447 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505457501 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505457585 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505457598 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505458480 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505458686 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505458840 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505458910 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505458984 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505459140 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505460057 TRIP4 Health Risk Pathogenic —
RS2505463040 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505463062 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505463082 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505463095 FBN1 Health Risk Likely pathogenic —
RS2505463100 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505463243 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505463293 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505463427 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505463433 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505463495 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505463592 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505464687 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505468711 CHD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2505468747 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505469619 LRRK1 Health Risk Pathogenic —
RS2505470327 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505470638 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505470770 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505470826 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS2505470845 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505470919 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505470997 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505478915 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505479129 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505480050 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505480054 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505480134 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505480334 CHD2 Health Risk Pathogenic Epilepsy, Epilepsy
RS2505481566 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505482825 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS2505483025 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS2505485227 CHD2 Health Risk Pathogenic —
RS2505485409 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505485513 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505485530 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505485551 FBN1 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome 2, dominant
RS2505485644 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505485657 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505486063 SOX5 Health Risk Likely pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS2505488349 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505488406 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505488412 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505488567 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505490478 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS2505490952 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505491030 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505491035 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
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