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: rs267606800
rs267606800
FBN1
0.882 0.160 15 48467994 missense variant C/G;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 6 2000 2016
dbSNP: rs267606800
rs267606800
FBN1
0.882 0.160 15 48467994 missense variant C/G;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 6 2000 2016
dbSNP: rs267606800
rs267606800
FBN1
0.882 0.160 15 48467994 missense variant C/G;T snv
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome 		0.700 0