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: rs112375043
rs112375043
FBN1
0.925 0.160 15 48472594 stop gained G/A;C;T snv 3.6E-05 1.4E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 10 1996 2017
dbSNP: rs112375043
rs112375043
FBN1
0.925 0.160 15 48472594 stop gained G/A;C;T snv 3.6E-05 1.4E-05
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0