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: rs2896019
rs2896019
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.710 1.000 2 2013 2014
dbSNP: rs641738
rs641738
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.020 1.000 2 2018 2019
dbSNP: rs738491
rs738491
3 0.882 0.040 22 43958231 intron variant C/T snv 0.34 0.710 1.000 2 2013 2015
dbSNP: rs1010022
rs1010022
1 1.000 22 43940430 intron variant A/G snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs1010023
rs1010023
4 0.851 0.080 22 43940218 intron variant T/C snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs10499563
rs10499563
7 0.807 0.120 7 22720869 intron variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs11090617
rs11090617
1 1.000 22 43930820 intron variant C/T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs12447924
rs12447924
3 1.000 16 56960280 upstream gene variant C/T snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs12483959
rs12483959
4 1.000 22 43930116 intron variant G/A;C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs12597002
rs12597002
3 1.000 16 56968492 intron variant C/A snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs12743824
rs12743824
2 0.925 0.040 1 99317401 intergenic variant C/A snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs1461729
rs1461729
5 1.000 8 9329732 intron variant A/G snv 0.88 0.700 1.000 1 2013 2013
dbSNP: rs1474745
rs1474745
1 1.000 22 43953356 intron variant T/C snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs1800624
rs1800624
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1883349
rs1883349
1 1.000 22 43936063 intron variant G/A snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs1883350
rs1883350
1 1.000 22 43932163 intron variant T/C snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs1977081
rs1977081
2 1.000 22 43934248 intron variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs2072905
rs2072905
1 1.000 22 43937599 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2072907
rs2072907
3 0.882 0.120 22 43936773 intron variant C/G snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs2073079
rs2073079
1 1.000 22 43989714 intron variant A/G snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs2073080
rs2073080
2 0.925 0.040 22 43998522 intron variant C/T snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs2073081
rs2073081
1 1.000 22 43939864 intron variant T/C snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs2076211
rs2076211
3 1.000 22 43933198 intron variant C/A;T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2126259
rs2126259
9 1.000 8 9327636 intron variant T/C snv 0.87 0.700 1.000 1 2013 2013