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: rs267607109
rs267607109
TGFBI
5 0.827 0.160 5 136056754 missense variant C/A snv 0.040 0.750 4 2004 2007
dbSNP: rs121909210
rs121909210
TGFBI
15 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs121909715
rs121909715
GSN
8 0.790 0.160 9 121310819 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs267607110
rs267607110
TGFBI
4 0.851 0.160 5 136056769 missense variant C/A snv 0.010 < 0.001 1 2004 2004
dbSNP: rs756465037
rs756465037
LTF
6 0.807 0.200 3 46439392 missense variant C/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2005 2005