Source: ALL
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: rs1057519825
rs1057519825
BTK
7 0.882 0.120 X 101356176 missense variant C/G snv 0.050 1.000 5 2015 2018
dbSNP: rs1057519826
rs1057519826
BTK
7 0.882 0.120 X 101356177 missense variant A/T snv 0.050 1.000 5 2015 2018
dbSNP: rs210142
rs210142
BAK1 ; GGNBP1
3 0.925 0.120 6 33579060 intron variant T/C snv 0.74 0.820 1.000 3 2012 2013
dbSNP: rs35923643
rs35923643
GRAMD1B
3 0.925 0.120 11 123484683 intron variant A/G snv 0.15 0.710 1.000 3 2016 2018
dbSNP: rs8024033
rs8024033 		2 0.925 0.120 15 40111456 upstream gene variant C/G snv 0.50 0.800 1.000 3 2013 2017
dbSNP: rs1036935
rs1036935 		2 0.925 0.120 18 50317164 upstream gene variant A/G;T snv 0.710 1.000 2 2011 2017
dbSNP: rs1044873
rs1044873
IRF8
2 0.925 0.120 16 85922065 3 prime UTR variant C/T snv 0.40 0.810 1.000 2 2013 2014
dbSNP: rs1057519831
rs1057519831
PLCG2
3 1.000 0.120 16 81912655 missense variant C/T snv 0.710 1.000 2 2014 2015
dbSNP: rs1057519832
rs1057519832
PLCG2
1 1.000 0.120 16 81928578 missense variant A/C;G;T snv 0.710 1.000 2 2014 2016
dbSNP: rs1359742
rs1359742 		2 0.925 0.120 9 22336997 intergenic variant G/C;T snv 0.800 1.000 2 2013 2016
dbSNP: rs2003869
rs2003869
LEF1
2 0.925 0.120 4 108105258 intron variant A/C;G;T snv 0.800 1.000 2 2013 2016
dbSNP: rs2511714
rs2511714 		2 0.925 0.120 8 102566646 regulatory region variant T/G snv 0.41 0.800 1.000 2 2013 2016
dbSNP: rs2521269
rs2521269
TSPAN32 ; C11orf21
2 0.925 0.120 11 2299865 intron variant C/A;T snv 0.800 1.000 2 2013 2016
dbSNP: rs3770745
rs3770745
QPCT
2 0.925 0.120 2 37368946 intron variant C/T snv 0.43 0.800 1.000 2 2013 2016
dbSNP: rs391855
rs391855 		2 0.925 0.120 16 85895015 upstream gene variant A/T snv 0.52 0.700 1.000 2 2016 2017
dbSNP: rs4368253
rs4368253 		2 0.925 0.120 18 59955055 TF binding site variant T/A;C snv 0.800 1.000 2 2013 2016
dbSNP: rs4406737
rs4406737
FAS
2 0.925 0.120 10 88999967 intron variant A/G snv 0.50 0.800 1.000 2 2013 2016
dbSNP: rs4987856
rs4987856
BCL2
2 0.925 0.120 18 63126261 3 prime UTR variant C/T snv 6.0E-02 0.800 1.000 2 2013 2016
dbSNP: rs58055674
rs58055674
ACOXL ; MIR4435-2HG
2 0.925 0.120 2 111074216 intron variant T/C snv 0.13 0.700 1.000 2 2016 2017
dbSNP: rs7578199
rs7578199
HDLBP
2 0.925 0.120 2 241253433 missense variant T/C;G snv 0.19; 8.4E-05 0.800 1.000 2 2013 2016
dbSNP: rs1041569
rs1041569
TNFSF13B
1 1.000 0.120 13 108267195 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1064796681
rs1064796681
TP53
1 1.000 0.120 17 7675091 missense variant C/T snv 0.010 < 0.001 1 2007 2007
dbSNP: rs11636802
rs11636802
LOC105370831
2 0.925 0.120 15 56483399 intergenic variant A/G snv 8.0E-02 0.800 1.000 1 2013 2013
dbSNP: rs11637565
rs11637565
DRAIC
2 0.925 0.120 15 69728186 intron variant G/A snv 0.66 0.700 1.000 1 2017 2017
dbSNP: rs11688943
rs11688943
PPIL3
1 1.000 0.120 2 200875545 intron variant T/C snv 0.30 0.700 1.000 1 2013 2013