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: rs137854468
rs137854468
0.851 0.160 15 48487396 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.810 1.000 26 1976 2013
dbSNP: rs137854468
rs137854468
0.851 0.160 15 48487396 missense variant C/T snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 5 1976 2010
dbSNP: rs137854468
rs137854468
0.851 0.160 15 48487396 missense variant C/T snv
CUI: C4016056
Disease: MARFAN SYNDROME, MILD
MARFAN SYNDROME, MILD
0.700 0
dbSNP: rs137854468
rs137854468
0.851 0.160 15 48487396 missense variant C/T snv
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta
0.010 1.000 1 1995 1995
dbSNP: rs137854468
rs137854468
0.851 0.160 15 48487396 missense variant C/T snv
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
0.010 1.000 1 2001 2001
dbSNP: rs137854468
rs137854468
0.851 0.160 15 48487396 missense variant C/T snv
CUI: C1812607
Disease: Aortic aneurysm and dissection
Aortic aneurysm and dissection
0.010 1.000 1 1995 1995