rs137854464, FBN1

N. diseases: 5
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.
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06 0.800 1.000 23 1993 2016
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
24 0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06 0.800 1.000 5 1994 2007
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06 0.700 1.000 5 1999 2016
Connective Tissue Diseases
CUI: C0009782
Disease: Connective Tissue Diseases
24 0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06 0.700 0
Ectopia Lentis
CUI: C0013581
Disease: Ectopia Lentis
17 0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06 0.010 1.000 1 1999 1999