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: rs1015164
rs1015164
CCRL2
8 0.925 3 46410189 intron variant A/C;G;T snv 0.010 1.000 1 2019 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: 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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
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: 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: rs1552896
rs1552896
FREM1
1 9 14841389 intron variant C/A;G snv 0.010 1.000 1 2012 2012
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: 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: 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: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2019 2019
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: 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: 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: 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: 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: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2018 2018
dbSNP: rs368234815
rs368234815
IFNL4
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.010 1.000 1 2014 2014
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: rs396716
rs396716
FCGR3A
1 1 161544806 missense variant A/G snv 7.2E-05 6.3E-05 0.010 1.000 1 2019 2019