Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs25403
rs25403
FBN1
3 0.882 0.200 15 48613073 missense variant G/A snv 0.020 1.000 2 2006 2013
dbSNP: rs137854480
rs137854480
FBN1
11 0.742 0.200 15 48537629 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs397514558
rs397514558
FBN1
4 0.851 0.200 15 48490013 missense variant G/A snv 7.0E-06 0.010 1.000 1 2012 2012