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: rs147195031
rs147195031
FBN1
0.882 0.160 15 48420780 missense variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 9 1973 2016
dbSNP: rs147195031
rs147195031
FBN1
0.882 0.160 15 48420780 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 9 1973 2016
dbSNP: rs147195031
rs147195031
FBN1
0.882 0.160 15 48420780 missense variant G/A snv
CUI: C4016059
Disease: MARFAN SYNDROME, AUTOSOMAL RECESSIVE
MARFAN SYNDROME, AUTOSOMAL RECESSIVE 		0.700 0