Source: ALL
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: rs1050828
rs1050828
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs1206634
rs1206634
2 1.000 0.040 X 96302380 intron variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs2281068
rs2281068
3 0.925 0.080 X 129653796 intron variant T/C snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs3115757
rs3115757
3 0.925 0.120 X 129648435 intron variant C/G snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.070 0.571 7 2001 2012
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.040 1.000 4 2013 2018
dbSNP: rs1800206
rs1800206
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.030 0.667 3 2005 2007
dbSNP: rs4821480
rs4821480
9 0.807 0.160 22 36299201 intron variant G/T snv 0.78 0.020 0.500 2 2011 2012
dbSNP: rs12107
rs12107
3 1.000 0.040 22 36281936 3 prime UTR variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4253776
rs4253776
2 1.000 0.040 22 46233582 intron variant A/G snv 0.21 0.010 1.000 1 2007 2007
dbSNP: rs4253778
rs4253778
3 1.000 0.040 22 46234737 intron variant G/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2016 2016
dbSNP: rs5756152
rs5756152
2 1.000 0.040 22 36316427 intron variant A/G snv 0.90 0.010 1.000 1 2012 2012
dbSNP: rs71785313
rs71785313
5 0.882 0.120 22 36265996 inframe deletion TTATAA/- delins 0.010 1.000 1 2015 2015
dbSNP: rs769370836
rs769370836
2 1.000 0.040 22 39968202 missense variant A/G snv 6.8E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs774887459
rs774887459
4 0.882 0.080 22 40405776 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs10084572
rs10084572
3 1.000 0.040 21 43992991 downstream gene variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11203203
rs11203203
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs1543654
rs1543654
2 1.000 0.040 21 34426752 upstream gene variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs372098146
rs372098146
2 1.000 0.040 21 43753698 missense variant C/A;G snv 4.0E-06; 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs3765209
rs3765209
7 0.851 0.040 21 15417030 intron variant C/T snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs377592729
rs377592729
2 1.000 0.040 21 43748998 missense variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs460976
rs460976
7 0.851 0.120 21 41463567 downstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs8133052
rs8133052
6 0.925 0.120 21 36135203 missense variant G/A;C snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs137853336
rs137853336
5 0.851 0.080 20 44413714 missense variant C/G;T snv 4.0E-06; 8.0E-05 0.020 1.000 2 2016 2019