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: rs17561
rs17561
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 < 0.001 1 2018 2018
dbSNP: rs3745274
rs3745274
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2017 2017
dbSNP: rs4898
rs4898
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.010 1.000 1 2012 2012
dbSNP: rs6314
rs6314
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.010 1.000 1 2008 2008
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.820 1.000 4 2010 2019
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.040 1.000 4 2011 2017
dbSNP: rs6822844
rs6822844
20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.020 1.000 2 2010 2011
dbSNP: rs5029939
rs5029939
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.020 1.000 2 2010 2017
dbSNP: rs2276109
rs2276109
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs2670660
rs2670660
15 0.708 0.400 17 5615686 intron variant A/G snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs10174238
rs10174238
14 0.724 0.200 2 191108308 intron variant G/A snv 0.70 0.700 1.000 2 2018 2019
dbSNP: rs12150220
rs12150220
14 0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 0.010 1.000 1 2011 2011
dbSNP: rs8192284
rs8192284
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4728142
rs4728142
18 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 0.020 1.000 2 2012 2013
dbSNP: rs1143679
rs1143679
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.010 1.000 1 2012 2012
dbSNP: rs11889341
rs11889341
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs2304256
rs2304256
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.010 1.000 1 2016 2016
dbSNP: rs2890565
rs2890565
15 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs33996649
rs33996649
13 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs10488631
rs10488631
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.810 1.000 5 2010 2019
dbSNP: rs3733197
rs3733197
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.020 1.000 2 2009 2010
dbSNP: rs2069840
rs2069840
13 0.742 0.360 7 22728953 intron variant C/G snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs6920220
rs6920220
14 0.742 0.440 6 137685367 intron variant G/A snv 0.16 0.010 < 0.001 1 2010 2010
dbSNP: rs10516487
rs10516487
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.020 1.000 2 2009 2010