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: rs1291142
rs1291142
SAMHD1
1 1.000 20 36896959 intron variant A/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2018 2018
dbSNP: rs13064773
rs13064773 		5 0.925 3 158893105 intergenic variant G/A snv 0.39 0.700 1.000 1 2015 2015
dbSNP: rs139297
rs139297
APOBEC3H
1 1.000 22 39101399 missense variant G/A;C;T snv 4.0E-06; 0.47 0.010 1.000 1 2016 2016
dbSNP: rs1406795590
rs1406795590
TMED2
1 1.000 12 123586856 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs143633948
rs143633948
ARG1
6 0.882 0.080 6 131504454 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs146215995
rs146215995
TRIM5
1 1.000 11 5679850 missense variant C/A;T snv 8.0E-06; 9.5E-05 0.010 1.000 1 2009 2009
dbSNP: rs147879075
rs147879075
CCR5 ; CCR5AS
1 1.000 3 46373902 stop gained C/A;G;T snv 1.6E-05; 8.2E-06; 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs16823858
rs16823858 		5 0.925 3 115559835 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs16933829
rs16933829
PIK3C2A
5 0.925 11 17094129 intron variant T/C snv 6.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs17038463
rs17038463
CNTN6
5 0.925 3 1383484 intron variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs17151904
rs17151904 		5 0.925 7 25568789 TF binding site variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs17169
rs17169
LINC00298 ; LINC00299
5 0.925 2 8037334 intron variant G/T snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs17691394
rs17691394
GRM8
5 0.925 7 126684537 intron variant A/G snv 0.13 0.700 1.000 1 2010 2010
dbSNP: rs1799937
rs1799937
WT1
3 0.882 0.160 11 32389228 intron variant A/G snv 0.35 0.35 0.010 1.000 1 2005 2005
dbSNP: rs1800451
rs1800451
MBL2
9 0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02 0.010 1.000 1 2003 2003
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 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 2004 2004
dbSNP: rs184279915
rs184279915
CCR5 ; CCR5AS
1 1.000 3 46373708 missense variant G/A;T snv 3.2E-05; 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs2074560
rs2074560
MX2
2 0.925 0.040 21 41380411 intron variant A/G snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs2229116
rs2229116
RYR3
9 0.827 0.080 15 33613209 missense variant A/G snv 0.23 0.21 0.700 1.000 1 2010 2010
dbSNP: rs2234591
rs2234591
WT1
2 0.925 0.080 11 32399873 intron variant T/C snv 1.4E-03 0.010 1.000 1 2005 2005
dbSNP: rs2294367
rs2294367
APOBEC3G
1 1.000 22 39083569 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs2301254
rs2301254
WT1 ; WT1-AS
3 0.882 0.160 11 32436129 intron variant A/G snv 0.48 0.010 1.000 1 2005 2005
dbSNP: rs241447
rs241447
TAP2
11 0.827 0.280 6 32828974 missense variant T/C snv 0.31 0.26 0.010 1.000 1 2020 2020