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: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2010 2010
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2008 2010
dbSNP: rs1800890
rs1800890
IL19
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.010 1.000 1 2008 2008
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2008 2010
dbSNP: rs1800975
rs1800975
XPA
19 0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.030 0.333 3 2004 2017
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2008 2008
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs2071286
rs2071286
NOTCH4
12 0.752 0.280 6 32212119 intron variant C/T snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs2227307
rs2227307
CXCL8
6 0.851 0.240 4 73740952 intron variant T/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.040 1.000 4 2013 2019
dbSNP: rs2231231
rs2231231
AQP3
5 0.851 0.240 9 33442988 non coding transcript exon variant A/C snv 0.67 0.69 0.010 1.000 1 2018 2018
dbSNP: rs2274084
rs2274084
GJB2
6 0.882 0.240 13 20189503 missense variant C/T snv 5.4E-02 2.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs2304240
rs2304240
ICAM3
4 0.882 0.200 19 10338716 synonymous variant A/G snv 0.81 0.85 0.010 1.000 1 2011 2011
dbSNP: rs2395185
rs2395185
HLA-DRB9
17 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs2466571
rs2466571
CD46
3 0.925 0.120 1 207766701 intron variant G/T snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2011 2011
dbSNP: rs267601394
rs267601394
EZH2
8 0.807 0.200 7 148811635 missense variant T/A;G snv 0.020 1.000 2 2014 2016
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2017 2017
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs3099844
rs3099844
MICB-DT
13 0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs3135932
rs3135932
IL10RA
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2006 2006
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.070 1.000 7 2014 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 1.000 4 2004 2017
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2014 2014