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: 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: 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: rs17266594
rs17266594
7 0.807 0.280 4 101829765 intron variant T/C snv 0.25 0.27 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: 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: 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
dbSNP: rs9514828
rs9514828
12 0.752 0.440 13 108269025 intron variant C/T snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs2205960
rs2205960
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.010 1.000 1 2013 2013
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: rs704840
rs704840
4 0.851 0.240 1 173257056 intergenic variant T/G snv 0.29 0.010 1.000 1 2013 2013
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: rs844648
rs844648
6 0.807 0.280 1 173254724 regulatory region variant G/A snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.030 0.667 3 2013 2018
dbSNP: rs10516487
rs10516487
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.010 1.000 1 2013 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: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2017 2017