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: rs11881222
rs11881222
3 0.925 0.080 19 39244283 intron variant A/G snv 0.30 0.060 1.000 6 2011 2015
dbSNP: rs10903035
rs10903035
2 1.000 0.080 1 24155450 3 prime UTR variant G/A snv 0.63 0.030 1.000 3 2011 2014
dbSNP: rs7248668
rs7248668
3 0.925 0.080 19 39253181 upstream gene variant G/A snv 0.16 0.020 1.000 2 2013 2013
dbSNP: rs74597329
rs74597329
1 1.000 0.080 19 39248515 missense variant T/A;G snv 0.22 0.700 1.000 2 2019 2019
dbSNP: rs1013151
rs1013151
1 1.000 0.080 X 12914412 intron variant C/T snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs1029153
rs1029153
1 1.000 0.080 10 44371698 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs1034713634
rs1034713634
1 1.000 0.080 3 42536097 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1049807
rs1049807
1 1.000 0.080 17 36105270 missense variant A/G snv 0.22 0.21 0.010 1.000 1 2018 2018
dbSNP: rs1052020291
rs1052020291
1 1.000 0.080 8 11848075 missense variant G/C snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1063340
rs1063340
1 1.000 0.080 17 36088417 3 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1063478
rs1063478
1 1.000 0.080 6 32949767 missense variant C/T snv 0.15 0.13 0.010 1.000 1 2014 2014
dbSNP: rs111200466
rs111200466
2 1.000 0.080 4 153684312 5 prime UTR variant CGGCTGCTCGGCGTTCTCTCAGG/- delins 0.17 0.010 1.000 1 2019 2019
dbSNP: rs111511318
rs111511318
1 1.000 0.080 5 156998817 intergenic variant C/A snv 2.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs11249006
rs11249006
1 1.000 0.080 1 24155984 3 prime UTR variant G/A snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs1156458285
rs1156458285
1 1.000 0.080 9 21440717 missense variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs116399066
rs116399066
1 1.000 0.080 1 143723149 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1178326401
rs1178326401
F2
1 1.000 0.080 11 46728826 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11790131
rs11790131
6 0.882 0.080 9 19469848 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1236515917
rs1236515917
1 1.000 0.080 9 21367798 missense variant C/G snv 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1297986
rs1297986
2 1.000 0.080 3 107912675 intron variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1303234079
rs1303234079
1 1.000 0.080 7 143267656 missense variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs13401937
rs13401937
1 1.000 0.080 2 55025078 splice region variant T/G snv 0.11 0.14 0.700 1.000 1 2019 2019
dbSNP: rs143633948
rs143633948
6 0.882 0.080 6 131504454 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs147257424
rs147257424
2 0.925 0.080 1 11801299 missense variant C/A;G;T snv 1.2E-05; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1480480967
rs1480480967
2 1.000 0.080 9 21367884 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011