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: rs12273363
rs12273363
11 0.807 0.120 11 27723312 intron variant T/C snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 < 0.001 1 2016 2016
dbSNP: rs2298813
rs2298813
7 0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs363050
rs363050
8 0.790 0.240 20 10253609 intron variant G/A snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs405509
rs405509
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs4935774
rs4935774
2 0.925 0.080 11 121451045 intron variant T/C snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2019 2019
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs704180
rs704180
6 0.807 0.240 12 21841177 intron variant A/G snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs7127507
rs7127507
6 0.827 0.080 11 27693337 intron variant T/C snv 0.34 0.010 1.000 1 2018 2018
dbSNP: rs73069071
rs73069071
6 0.807 0.240 12 21357370 intron variant T/C snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs730882147
rs730882147
5 0.851 0.080 6 41909351 missense variant C/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7354779
rs7354779
6 0.827 0.200 21 44250887 missense variant T/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs769236847
rs769236847
8 0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs796052019
rs796052019
3 0.882 0.160 13 100157297 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs895293055
rs895293055
5 0.851 0.080 6 41909351 frameshift variant C/- delins 0.010 1.000 1 2015 2015
dbSNP: rs908867
rs908867
7 0.851 0.160 11 27724217 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs9637454
rs9637454
3 0.882 0.120 3 178539774 intron variant G/A snv 0.23 0.010 < 0.001 1 2016 2016