Source: BEFREE ×
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: 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
dbSNP: rs396991
rs396991
FCGR3A
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 1.000 1 2019 2019
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: rs4349147
rs4349147
IL32
1 16 3074919 intron variant A/G snv 0.69 0.010 1.000 1 2018 2018
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: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2019 2019
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: 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: 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: 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: rs7096206
rs7096206
MBL2
17 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs738409
rs738409
PNPLA3
80 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2014 2014
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: 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: rs7935564
rs7935564
TRIM22 ; TRIM5
1 11 5697287 missense variant G/A snv 0.52 0.55 0.010 1.000 1 2016 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2014 2014
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 < 0.001 1 2016 2016
dbSNP: rs9264942
rs9264942
HLA-B ; LOC112267902
8 0.763 0.400 6 31306603 intron variant T/C snv 0.34 0.010 1.000 1 2012 2012