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: rs7604115
rs7604115
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
4 2 233749470 intron variant C/T snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs887829
rs887829
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
18 0.763 0.280 2 233759924 intron variant C/T snv 0.36 0.700 1.000 1 2015 2015
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: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.020 0.500 2 2007 2010
dbSNP: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.020 1.000 2 2014 2019
dbSNP: rs1015164
rs1015164
CCRL2
8 0.925 3 46410189 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11914494
rs11914494
IGSF11
2 3 119121264 intron variant G/A snv 1.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs11926663
rs11926663
IGSF11
2 3 119125638 intron variant A/G snv 1.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs139231591
rs139231591 		1 3 48342403 regulatory region variant C/T snv 1.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs141827060
rs141827060
IGSF11
2 3 119132020 intron variant C/T snv 1.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs1800452
rs1800452
CCR5 ; CCR5AS
1 3 46373570 missense variant G/A snv 4.9E-03 1.9E-03 0.010 1.000 1 2005 2005
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: rs2853699
rs2853699
CCR8
1 3 39332411 missense variant C/A;G;T snv 4.0E-06; 0.21; 2.8E-05 0.010 1.000 1 2017 2017
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: rs5743836
rs5743836
TLR9
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs731580
rs731580
FGD5
2 3 14815331 intron variant G/A snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs75158213
rs75158213 		1 3 48345739 intergenic variant T/C snv 1.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs7640677
rs7640677 		1 3 48340996 intergenic variant G/A snv 1.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs765009973
rs765009973
CCR5 ; CCR5AS
1 3 46373909 missense variant G/T snv 7.4E-05 2.1E-05 0.010 1.000 1 2005 2005
dbSNP: rs10025419
rs10025419
EMCN
1 4 100647799 intron variant G/A snv 0.87 0.700 1.000 1 2015 2015
dbSNP: rs1836778
rs1836778 		2 4 29332870 intergenic variant T/C snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs1966678
rs1966678 		2 4 29322410 intergenic variant T/G snv 0.60 0.700 1.000 1 2015 2015
dbSNP: rs2866233
rs2866233
EMCN
1 4 100649444 intron variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2013 2013