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: rs794728319
rs794728319
FBN1
0.851 0.160 15 48427731 frameshift variant AT/- del
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 8 2002 2016
dbSNP: rs794728319
rs794728319
FBN1
0.851 0.160 15 48427731 frameshift variant AT/- del
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 5 2002 2016
dbSNP: rs794728319
rs794728319
FBN1
0.851 0.160 15 48427731 frameshift variant AT/- del
CUI: C0002940
Disease: Aneurysm
Aneurysm 		0.700 0
dbSNP: rs794728319
rs794728319
FBN1
0.851 0.160 15 48427731 frameshift variant AT/- del
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		0.700 0