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: rs2459976
rs2459976
1 1.000 0.040 11 113772271 intron variant G/A snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs6918631
rs6918631
1 1.000 0.040 6 28344679 intron variant C/T snv 5.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs9295769
rs9295769
1 1.000 0.040 6 28336792 splice region variant A/G snv 5.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs2075291
rs2075291
15 0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.830 1.000 7 2011 2018
dbSNP: rs6589566
rs6589566
10 0.882 0.080 11 116781707 intron variant G/A;C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs3757333
rs3757333
1 1.000 0.040 6 30060829 non coding transcript exon variant C/A snv 9.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs16982520
rs16982520
4 1.000 0.040 20 59183665 intron variant A/G snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs16948048
rs16948048
8 0.925 0.040 17 49363104 intron variant A/G snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs4804611
rs4804611
2 0.925 0.080 19 11617987 3 prime UTR variant A/G snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs16998248
rs16998248
3 0.882 0.040 20 53581801 synonymous variant T/A snv 0.11 8.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs35720349
rs35720349
3 0.882 0.040 20 53577121 missense variant G/A snv 3.4E-02 1.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs9468076
rs9468076
1 1.000 0.040 6 27371111 upstream gene variant C/T snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs10484404
rs10484404
1 1.000 0.040 6 28087717 intron variant C/T snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs121908603
rs121908603
3 0.882 0.120 8 105802189 missense variant A/C;G snv 4.9E-04; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs146423225
rs146423225
2 0.925 0.120 8 105802747 stop gained C/G;T snv 1.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs16971436
rs16971436
4 0.851 0.080 16 72958864 missense variant T/C;G snv 1.2E-05; 7.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs2106261
rs2106261
11 0.763 0.160 16 73017721 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs7190256
rs7190256
16 0.851 0.120 16 72963084 intron variant C/T snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs12369179
rs12369179
16 0.851 0.120 12 122479003 intron variant C/T snv 5.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs11556924
rs11556924
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.810 1.000 5 2011 2017
dbSNP: rs411538
rs411538
1 1.000 0.040 6 28587673 non coding transcript exon variant C/T snv 3.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs911178
rs911178
2 0.925 0.120 6 28606638 intron variant T/C snv 0.89 0.700 1.000 1 2012 2012
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2013 2013
dbSNP: rs7819412
rs7819412
6 0.827 0.120 8 11187652 intron variant G/A;T snv 0.010 1.000 1 2019 2019