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: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.030 0.667 3 2010 2013
dbSNP: rs117026326
rs117026326
10 0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02 0.020 1.000 2 2013 2019
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.020 1.000 2 2013 2016
dbSNP: rs10817595
rs10817595
2 0.925 0.200 9 114361470 intron variant C/A;T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs10840759
rs10840759
3 0.882 0.200 12 8138610 intron variant C/T snv 0.28 0.010 < 0.001 1 2015 2015
dbSNP: rs11575837
rs11575837
2 1.000 0.200 6 31592893 5 prime UTR variant C/T snv 2.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs1234313
rs1234313
6 0.807 0.400 1 173197108 intron variant A/G snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs12583006
rs12583006
8 0.807 0.320 13 108285104 intron variant T/A snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2007 2007
dbSNP: rs2070197
rs2070197
6 0.827 0.280 7 128948946 3 prime UTR variant T/C snv 9.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs2205960
rs2205960
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2254546
rs2254546
6 0.807 0.400 8 11486171 upstream gene variant A/G snv 0.83 0.010 1.000 1 2013 2013
dbSNP: rs2377422
rs2377422
3 0.882 0.200 12 8128312 intron variant C/T snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs2618479
rs2618479
BLK
2 0.925 0.280 8 11498312 intron variant A/G snv 0.84 0.010 1.000 1 2013 2013
dbSNP: rs3792783
rs3792783
3 0.882 0.280 5 151076171 intron variant A/G snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2017 2017
dbSNP: rs4522865
rs4522865
4 0.882 0.240 4 101794731 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs485497
rs485497
2 0.925 0.200 3 160001345 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs4917014
rs4917014
8 0.807 0.360 7 50266267 upstream gene variant T/G snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs4917129
rs4917129
6 0.807 0.240 7 50283578 intergenic variant T/C snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs6822844
rs6822844
20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs704840
rs704840
4 0.851 0.240 1 173257056 intergenic variant T/G snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs7582694
rs7582694
9 0.763 0.400 2 191105394 intron variant C/G snv 0.77 0.010 1.000 1 2010 2010
dbSNP: rs7708392
rs7708392
13 0.732 0.400 5 151077924 intron variant G/C snv 0.44 0.010 1.000 1 2013 2013