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: rs794728190
rs794728190
FBN1
0.882 0.160 15 48496213 missense variant C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 8 1973 2010
dbSNP: rs794728190
rs794728190
FBN1
0.882 0.160 15 48496213 missense variant C/A;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 8 1973 2010
dbSNP: rs794728190
rs794728190
FBN1
0.882 0.160 15 48496213 missense variant C/A;T snv
CUI: C0002940
Disease: Aneurysm
Aneurysm 		0.700 0