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: 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: 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: 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: rs5764455
rs5764455
1 1.000 0.040 22 44002644 intron variant A/C;G snv 0.710 1.000 2 2013 2016
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: 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: 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
dbSNP: rs1292932521
rs1292932521
1 1.000 0.040 22 18517476 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs13306741
rs13306741
1 1.000 0.040 17 17811708 3 prime UTR variant C/A;T snv 4.3E-03; 7.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs13428113
rs13428113
1 1.000 0.040 2 118089309 intron variant T/C snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs1412189378
rs1412189378
1 1.000 0.040 4 99583404 missense variant C/A snv 0.010 1.000 1 2009 2009
dbSNP: rs143392071
rs143392071
1 1.000 0.040 22 43933050 missense variant A/G snv 7.2E-04 2.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs1492100
rs1492100
1 1.000 0.040 3 148719640 intron variant T/A snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs17120035
rs17120035
1 1.000 0.040 11 116793135 upstream gene variant C/T snv 6.4E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs1800804
rs1800804
1 1.000 0.040 4 99574660 intron variant T/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1805074
rs1805074
1 1.000 0.040 5 79028529 missense variant A/G snv 0.27 0.33 0.010 1.000 1 2017 2017
dbSNP: rs1858999
rs1858999
1 1.000 0.040 19 19386860 intron variant C/G snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs1881396
rs1881396
1 1.000 0.040 2 27621734 3 prime UTR variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1953124
rs1953124
1 1.000 0.040 13 65771915 regulatory region variant C/A;G;T snv 0.700 1.000 1 2019 2019