Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs25403
rs25403
FBN1
0.882 0.200 15 48613073 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 7 2002 2016
dbSNP: rs25403
rs25403
FBN1
0.882 0.200 15 48613073 missense variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 7 2002 2016
dbSNP: rs25403
rs25403
FBN1
0.882 0.200 15 48613073 missense variant G/A snv
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated 		0.020 1.000 2 2006 2013