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: rs149062442
rs149062442
FBN1
0.925 0.160 15 48415588 stop gained C/A;T snv 2.0E-05 5.6E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs149062442
rs149062442
FBN1
0.925 0.160 15 48415588 stop gained C/A;T snv 2.0E-05 5.6E-05
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0