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: rs2476601
rs2476601
100 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.900 0.972 30 2004 2019
dbSNP: rs7574865
rs7574865
54 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.900 0.967 23 2007 2017
dbSNP: rs1143679
rs1143679
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.900 1.000 19 2009 2019
dbSNP: rs2230926
rs2230926
26 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.900 0.867 11 2008 2019
dbSNP: rs13277113
rs13277113
BLK
17 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.890 1.000 9 2008 2019
dbSNP: rs10516487
rs10516487
10 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.880 1.000 8 2008 2019
dbSNP: rs2205960
rs2205960
8 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.880 1.000 8 2009 2019
dbSNP: rs2736340
rs2736340
21 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.870 1.000 7 2009 2019
dbSNP: rs17266594
rs17266594
7 0.807 0.280 4 101829765 intron variant T/C snv 0.25 0.27 0.850 1.000 5 2008 2017
dbSNP: rs5029939
rs5029939
18 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.850 1.000 5 2008 2017
dbSNP: rs2431697
rs2431697
8 0.776 0.240 5 160452971 intron variant T/C snv 0.44 0.840 1.000 4 2008 2017
dbSNP: rs9271366
rs9271366
4 0.807 0.240 6 32619077 intergenic variant G/A snv 0.86 0.840 1.000 4 2009 2019
dbSNP: rs10036748
rs10036748
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.830 1.000 3 2009 2017
dbSNP: rs10488631
rs10488631
6 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.830 1.000 3 2008 2016
dbSNP: rs4917014
rs4917014
4 0.807 0.360 7 50266267 upstream gene variant T/G snv 0.26 0.830 1.000 3 2009 2017
dbSNP: rs4963128
rs4963128
2 0.882 0.120 11 589564 intron variant T/C snv 0.64 0.830 1.000 3 2008 2012
dbSNP: rs548234
rs548234
8 0.763 0.360 6 106120159 intron variant C/T snv 0.76 0.830 1.000 3 2009 2017
dbSNP: rs6445975
rs6445975
PXK
3 0.851 0.160 3 58384450 intron variant G/T snv 0.63 0.830 1.000 3 2008 2012
dbSNP: rs11574637
rs11574637
1 0.882 0.200 16 31357553 missense variant T/C snv 0.21 0.820 1.000 2 2008 2011
dbSNP: rs340630
rs340630
2 0.925 0.120 4 87037243 intron variant G/A snv 0.42 0.820 1.000 2 2012 2012
dbSNP: rs6590330
rs6590330
5 0.851 0.280 11 128441164 intergenic variant G/A;T snv 0.820 1.000 2 2009 2015
dbSNP: rs729302
rs729302
6 0.827 0.160 7 128928906 intergenic variant A/C snv 0.28 0.820 1.000 2 2008 2013
dbSNP: rs10798269
rs10798269
1 1.000 0.080 1 173340574 intergenic variant A/G;T snv 0.810 1.000 1 2008 2008
dbSNP: rs1128334
rs1128334
5 0.851 0.160 11 128459064 3 prime UTR variant C/T snv 0.11 0.810 1.000 1 2010 2016
dbSNP: rs1150754
rs1150754
2 0.851 0.200 6 32082981 intron variant C/A;T snv 0.810 1.000 1 2011 2017