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: rs5219
rs5219
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.100 0.882 17 2003 2019
dbSNP: rs201264306
rs201264306
3 0.925 0.080 11 17387566 missense variant G/A snv 2.4E-05 7.7E-05 0.020 1.000 2 2004 2019
dbSNP: rs5215
rs5215
7 0.827 0.160 11 17387083 missense variant C/T snv 0.64 0.71 0.020 1.000 2 2013 2018
dbSNP: rs587783672
rs587783672
5 0.882 0.080 11 17387413 missense variant C/T snv 4.0E-06 0.020 1.000 2 2007 2012
dbSNP: rs80356616
rs80356616
19 0.732 0.360 11 17387917 missense variant C/T snv 0.020 0.500 2 2006 2012
dbSNP: rs80356624
rs80356624
16 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 0.500 2 2006 2012
dbSNP: rs193929355
rs193929355
4 0.882 0.120 11 17387128 missense variant C/T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs193929356
rs193929356
4 0.925 0.080 11 17387103 missense variant T/A;C snv 0.010 < 0.001 1 2012 2012
dbSNP: rs587783668
rs587783668
4 0.882 0.240 11 17387629 missense variant C/T snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs80356610
rs80356610
6 0.827 0.080 11 17387968 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs80356611
rs80356611
10 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs80356625
rs80356625
6 0.827 0.280 11 17387491 missense variant G/A snv 0.010 1.000 1 2005 2005