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: rs183662584
rs183662584
CCR5 ; CCR5AS
2 1.000 3 46373218 missense variant G/A snv 5.2E-04 1.5E-04 0.010 1.000 1 2005 2005
dbSNP: rs2227513
rs2227513
IL22 ; LOC105369818
3 1.000 0.080 12 68253559 intron variant T/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs2243191
rs2243191
IL19 ; LOC105372878
2 1.000 0.040 1 206842612 missense variant T/C;G snv 0.71; 5.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs3091250
rs3091250
CCR3
2 1.000 0.040 3 46264639 non coding transcript exon variant G/T snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs3135945
rs3135945
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
2 1.000 0.200 3 48467567 synonymous variant G/A snv 9.4E-03 4.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs6139258
rs6139258
RNF24
2 1.000 0.080 20 3977969 intron variant T/C snv 3.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs67384697
rs67384697
HLA-C
2 1.000 0.040 6 31268906 3 prime UTR variant C/- delins 6.2E-04 0.010 1.000 1 2012 2012
dbSNP: rs1015164
rs1015164
CCRL2
8 0.925 3 46410189 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11012476
rs11012476
NEBL
3 0.925 0.120 10 21003994 intron variant C/T snv 3.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs12662869
rs12662869
SLC17A1
4 0.925 0.120 6 25784253 intron variant C/A snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs201565523
rs201565523
SLC11A1
3 0.925 0.240 2 218390027 missense variant C/T snv 2.9E-04 7.7E-05 0.010 1.000 1 2002 2002
dbSNP: rs2255301
rs2255301
CD4
3 0.925 0.160 12 6800276 intron variant T/C snv 0.59 0.61 0.010 1.000 1 2011 2011
dbSNP: rs40837
rs40837
IL27
5 0.925 0.120 16 28499524 3 prime UTR variant A/G snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs4359426
rs4359426
CCL22
3 0.925 0.120 16 57358821 missense variant A/C;T snv 0.92 0.94 0.010 1.000 1 2017 2017
dbSNP: rs929596
rs929596
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
9 0.925 0.040 2 233765830 intron variant A/G snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs4842407
rs4842407 		4 0.882 0.200 12 78807293 intron variant A/G snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs4148325
rs4148325
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
11 0.851 0.080 2 233764663 intron variant C/T snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs56061981
rs56061981
ART3 ; CXCL10
5 0.851 0.120 4 76023632 intron variant C/T snv 7.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs5010528
rs5010528
HLA-B ; HLA-C
9 0.827 0.240 6 31273255 intron variant A/G snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs535915558
rs535915558
PMEL
6 0.827 0.120 12 55958494 missense variant C/T snv 2.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs10484554
rs10484554
HLA-B ; LOC112267902
11 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.010 1.000 1 2008 2008
dbSNP: rs6742078
rs6742078
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
13 0.807 0.240 2 233763993 intron variant G/T snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs11568350
rs11568350
SLC40A1
9 0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs2395029
rs2395029
HCP5
12 0.790 0.320 6 31464003 non coding transcript exon variant T/G snv 2.7E-02 2.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs179008
rs179008
TLR7
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.020 1.000 2 2014 2017