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: rs756207760
rs756207760
CXCR4
2 2 136115275 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2002 2002
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: 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: 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: 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: 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: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.020 0.500 2 2010 2018
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: 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: 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: 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: rs1552896
rs1552896
FREM1
1 9 14841389 intron variant C/A;G snv 0.010 1.000 1 2012 2012
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: rs9264942
rs9264942
HLA-B ; LOC112267902
15 0.763 0.400 6 31306603 intron variant T/C snv 0.34 0.010 1.000 1 2012 2012
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: 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
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
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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1800450
rs1800450
MBL2
26 0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11 0.010 1.000 1 2014 2014
dbSNP: rs368234815
rs368234815
IFNL4
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.010 1.000 1 2014 2014