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: 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: 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: 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
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: 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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
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: rs13447
rs13447
4 0.882 0.200 7 75166663 non coding transcript exon variant T/A;C snv 1.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs1376314937
rs1376314937
1 1.000 0.200 9 114361709 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
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: 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: rs201802880
rs201802880
4 0.882 0.200 7 74779296 missense variant G/A snv 1.1E-03 0.010 1.000 1 2017 2017
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: 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: 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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 < 0.001 1 2005 2005
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: 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: rs2839698
rs2839698
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.010 < 0.001 1 2017 2017