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: rs587782652
rs587782652
5 0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 0.700 0
dbSNP: rs755009196
rs755009196
3 0.925 0.160 11 108332024 missense variant C/G snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs777741666
rs777741666
3 0.925 0.080 11 108327759 splice donor variant G/A;T snv 0.700 0
dbSNP: rs28904921
rs28904921
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.080 0.875 8 1998 2016
dbSNP: rs11212617
rs11212617
7 0.827 0.200 11 108412434 intron variant C/A snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs139379666
rs139379666
2 0.925 0.080 11 108365152 missense variant C/T snv 7.6E-05 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs373759
rs373759
3 0.882 0.120 11 108349930 intron variant C/T snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs376676328
rs376676328
5 0.882 0.280 11 108353828 missense variant A/G snv 2.2E-04 1.8E-04 0.010 1.000 1 2007 2007
dbSNP: rs587779852
rs587779852
4 0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05 0.010 1.000 1 2009 2009
dbSNP: rs664143
rs664143
8 0.807 0.160 11 108354934 3 prime UTR variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs769142993
rs769142993
7 0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 0.010 < 0.001 1 2007 2007