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: rs398122833
rs398122833
FBN1
0.882 0.160 15 48412568 splice donor variant C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 2 2011 2014
dbSNP: rs398122833
rs398122833
FBN1
0.882 0.160 15 48412568 splice donor variant C/A;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2011 2014
dbSNP: rs398122833
rs398122833
FBN1
0.882 0.160 15 48412568 splice donor variant C/A;T snv
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.700 0