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: rs11190870
rs11190870
6 0.827 0.200 10 101219450 intergenic variant T/A;C snv 0.100 1.000 10 2013 2019
dbSNP: rs6137473
rs6137473
5 0.827 0.280 20 21904055 intergenic variant G/A snv 0.61 0.030 1.000 3 2018 2019
dbSNP: rs11598564
rs11598564
3 0.925 0.200 10 101204847 intergenic variant G/A snv 0.45 0.020 1.000 2 2013 2019
dbSNP: rs12946942
rs12946942
4 0.882 0.200 17 71240857 intergenic variant G/T snv 7.5E-02 0.020 1.000 2 2013 2019
dbSNP: rs12517904
rs12517904
1 1.000 0.160 5 3607950 intergenic variant G/A;T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs169311
rs169311
2 0.925 0.240 20 21981695 regulatory region variant A/C snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs4794665
rs4794665
3 1.000 0.160 17 56772968 intergenic variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs741837
rs741837
1 1.000 0.160 7 153330567 intergenic variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs687621
rs687621
ABO
18 0.851 0.240 9 133261662 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs6570507
rs6570507
13 0.827 0.240 6 142358435 intron variant G/A snv 0.47 0.030 1.000 3 2015 2018
dbSNP: rs7774095
rs7774095
3 1.000 0.160 6 142349725 intron variant C/A snv 0.37 0.020 1.000 2 2015 2017
dbSNP: rs41289839
rs41289839
1 1.000 0.160 6 142383933 intron variant G/A snv 7.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs7755109
rs7755109
3 1.000 0.160 6 142429255 intron variant A/G snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs9403380
rs9403380
1 1.000 0.160 6 142331279 intron variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs9332969
rs9332969
AR
5 0.827 0.240 X 67722899 missense variant G/A;T snv 0.820 0.969 32 1992 2019
dbSNP: rs1555996863
rs1555996863
AR
2 0.925 0.200 X 67717600 missense variant G/A snv 0.800 1.000 29 1992 2016
dbSNP: rs137852577
rs137852577
AR
3 0.882 0.200 X 67722898 missense variant C/T snv 0.810 1.000 27 1992 2009
dbSNP: rs886041133
rs886041133
AR
3 0.882 0.200 X 67723746 missense variant G/A;C snv 5.5E-06 0.800 1.000 26 1992 2014
dbSNP: rs137852569
rs137852569
AR
10 0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06 0.800 1.000 23 1992 2017
dbSNP: rs137852564
rs137852564
AR
5 0.827 0.240 X 67722976 missense variant G/A;T snv 0.810 1.000 21 1992 2016
dbSNP: rs137852586
rs137852586
AR
1 1.000 0.160 X 67643378 missense variant G/A;T snv 0.810 1.000 21 1992 2005
dbSNP: rs137852600
rs137852600
AR
2 0.925 0.160 X 67717535 missense variant G/A;T snv 0.810 1.000 21 1992 2004
dbSNP: rs1555995822
rs1555995822
AR
2 0.925 0.200 X 67711569 missense variant G/A snv 0.800 1.000 21 1992 2004
dbSNP: rs886041132
rs886041132
AR
2 0.925 0.160 X 67722943 missense variant C/T snv 0.810 0.952 21 1992 2004
dbSNP: rs9332971
rs9332971
AR
4 0.851 0.200 X 67722944 missense variant G/A;T snv 0.810 0.952 21 1992 2004