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
RS2505415185 FBN1 Health Risk Pathogenic FBN1-related disorder, FBN1-related disorder
RS2505415219 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505415290 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505415311 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS2505419625 KIF7 Health Risk Likely pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS2505419657 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS2505419880 FBN1 Health Risk Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS2505419887 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505419892 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505419982 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505419990 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505420133 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505420278 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505420312 FBN1 Health Risk Likely pathogenic —
RS2505421701 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2505421714 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2505421722 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2505422461 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505423919 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505423950 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505424697 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505424789 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505425036 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505425081 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505425143 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505425182 FBN1 Health Risk Pathogenic —
RS2505425229 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505425291 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505425338 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505425468 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505425503 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505425763 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505426240 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505426263 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505426416 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505426700 KIF7 Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2505426939 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505427409 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505427549 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505427648 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505427987 TRIP4 Health Risk Likely pathogenic —
RS2505428176 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505428800 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS2505428836 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505429011 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS2505429240 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505429354 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505429412 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505429471 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505429599 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505429718 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505429722 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505429817 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS2505429939 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505431550 HBA2 Health Risk Pathogenic alpha Thalassemia, alpha Thalassemia
RS2505432973 CHD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2505433070 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505433092 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505433946 LRRK1 Health Risk Pathogenic —
RS2505434082 TRIP4 Health Risk Pathogenic —
RS2505434577 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2505434603 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505434766 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505434937 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505434943 KIF7 Health Risk Likely pathogenic —
RS2505435127 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505435138 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505435325 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505435709 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505435789 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505435954 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505436797 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505436934 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505437074 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505437265 HBA1 Health Risk Pathogenic Alpha-thalassemia, Dutch type
RS2505438414 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505438487 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505438636 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505438655 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS2505438669 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505438703 FBN1 Health Risk Pathogenic —
RS2505438794 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505440995 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505441027 BLM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS2505441268 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505441711 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505441838 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505441922 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505441930 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505442187 CLN6 Health Risk Pathogenic —
RS2505443321 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505443592 CHD2 Health Risk Likely pathogenic —
RS2505445838 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505445884 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505445905 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505445912 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505445952 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505446051 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505446232 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505446366 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
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