rs397514558, FBN1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
24 0.851 0.200 15 48490013 missense variant G/A snv 7.0E-06 0.700 0
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.851 0.200 15 48490013 missense variant G/A snv 7.0E-06 0.700 0
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.851 0.200 15 48490013 missense variant G/A snv 7.0E-06 0.700 0
Ectopia lentis isolated
CUI: C1851286
Disease: Ectopia lentis isolated
3 0.851 0.200 15 48490013 missense variant G/A snv 7.0E-06 0.010 1.000 1 2012 2012