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: rs113544411
rs113544411
FBN1
0.925 0.160 15 48421652 stop gained G/A;C;T snv 1.2E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 17 1996 2017
dbSNP: rs113544411
rs113544411
FBN1
0.925 0.160 15 48421652 stop gained G/A;C;T snv 1.2E-05
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 7 2000 2009