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: rs1420472625
rs1420472625
2 0.925 0.040 19 54178800 missense variant G/C snv 0.040 1.000 4 2016 2018
dbSNP: rs139051
rs139051
1 1.000 0.040 22 43928796 intron variant A/G snv 0.56 0.59 0.030 1.000 3 2012 2018
dbSNP: rs12137855
rs12137855
3 0.882 0.040 1 219275036 downstream gene variant C/T snv 0.19 0.020 1.000 2 2014 2019
dbSNP: rs2073080
rs2073080
2 0.925 0.040 22 43998522 intron variant C/T snv 0.20 0.810 1.000 2 2012 2018
dbSNP: rs2073082
rs2073082
1 1.000 0.040 22 43964127 intron variant G/A snv 0.18 0.700 1.000 2 2012 2013
dbSNP: rs2276736
rs2276736
1 1.000 0.040 3 148708086 intron variant A/G;T snv 0.020 1.000 2 2009 2013
dbSNP: rs2954021
rs2954021
15 1.000 0.040 8 125469835 intron variant A/G snv 0.54 0.020 1.000 2 2014 2019
dbSNP: rs3761472
rs3761472
2 0.925 0.040 22 43972242 missense variant A/G snv 0.21 0.18 0.710 1.000 2 2013 2018
dbSNP: rs3772627
rs3772627
1 1.000 0.040 3 148712467 intron variant A/G snv 0.44 0.020 1.000 2 2009 2013
dbSNP: rs3810622
rs3810622
1 1.000 0.040 22 43942254 intron variant T/C;G snv 0.40 0.710 1.000 2 2013 2016
dbSNP: rs4240624
rs4240624
5 0.882 0.040 8 9326721 intron variant G/A snv 0.87 0.710 1.000 2 2011 2014
dbSNP: rs5764455
rs5764455
1 1.000 0.040 22 44002644 intron variant A/C;G snv 0.710 1.000 2 2013 2016
dbSNP: rs6006473
rs6006473
2 0.925 0.040 22 43997195 intron variant C/T snv 0.47 0.710 1.000 2 2013 2016
dbSNP: rs738491
rs738491
3 0.882 0.040 22 43958231 intron variant C/T snv 0.34 0.800 1.000 2 2013 2018
dbSNP: rs1057613
rs1057613
1 1.000 0.040 4 99583828 3 prime UTR variant G/A snv 0.60 0.010 1.000 1 2014 2014
dbSNP: rs10750097
rs10750097
6 1.000 0.040 11 116793324 upstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs10883437
rs10883437
3 1.000 0.040 10 100035604 regulatory region variant T/A;G snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs11166927
rs11166927
1 1.000 0.040 8 139784177 intron variant T/C snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs11235972
rs11235972
1 1.000 0.040 11 74006029 intron variant G/A snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs117542855
rs117542855
1 1.000 0.040 11 1635713 regulatory region variant C/G;T snv 3.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs11794552
rs11794552
1 1.000 0.040 9 131344938 intron variant C/T snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs11820744
rs11820744
2 1.000 0.040 11 3147308 intron variant C/T snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs11976006
rs11976006
3 1.000 0.040 7 28691895 intron variant G/A snv 6.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs12373751
rs12373751
1 1.000 0.040 2 212072166 intron variant T/C snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs12565406
rs12565406
1 1.000 0.040 1 209687741 intron variant G/A;T snv 0.010 1.000 1 2016 2016