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: rs137854478
rs137854478
FBN1
0.851 0.160 15 48488233 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.810 1.000 33 1993 2017
dbSNP: rs137854478
rs137854478
FBN1
0.851 0.160 15 48488233 missense variant C/T snv
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome 		0.710 1.000 1 2017 2017
dbSNP: rs137854478
rs137854478
FBN1
0.851 0.160 15 48488233 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 3 2000 2011
dbSNP: rs137854478
rs137854478
FBN1
0.851 0.160 15 48488233 missense variant C/T snv
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		0.700 0