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: rs10454134
rs10454134 		1 1.000 0.200 2 48420887 TF binding site variant G/A snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs17006292
rs17006292
TFCP2L1
1 1.000 0.200 2 121261187 intron variant C/A snv 2.8E-02 0.800 1.000 1 2012 2012
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 2006 2006
dbSNP: rs2058660
rs2058660
IL18RAP
4 0.882 0.280 2 102437989 intron variant G/A snv 0.78 0.010 1.000 1 2016 2016
dbSNP: rs2227981
rs2227981
PDCD1 ; LOC105373977
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.010 1.000 1 2011 2011
dbSNP: rs3811047
rs3811047
IL37
10 0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 0.010 1.000 1 2016 2016
dbSNP: rs7572482
rs7572482
STAT4
1 1.000 0.200 2 191150346 intron variant A/C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2010 2010
dbSNP: rs842647
rs842647
REL
6 0.827 0.400 2 60892336 intron variant G/A snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs897200
rs897200
STAT4
4 0.851 0.280 2 191153045 upstream gene variant T/C snv 0.54 0.800 1.000 1 2012 2012
dbSNP: rs17810546
rs17810546
IL12A-AS1
7 0.827 0.440 3 159947262 intron variant A/G snv 8.2E-02 0.810 1.000 3 2013 2015
dbSNP: rs7616215
rs7616215
CCR3 ; LOC105377067
2 0.925 0.280 3 46164194 intron variant C/T snv 0.62 0.810 1.000 2 2013 2015
dbSNP: rs1874886
rs1874886
IL12A-AS1
2 0.925 0.280 3 160011868 non coding transcript exon variant G/A snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2013 2013
dbSNP: rs3914501
rs3914501
NAALADL2
1 1.000 0.200 3 174846878 intron variant A/G snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs4857037
rs4857037
PROS1
1 1.000 0.200 3 93908968 intron variant G/A snv 0.89 0.010 1.000 1 2016 2016
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2015 2015
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.020 0.500 2 2006 2009
dbSNP: rs1126772
rs1126772
SPP1
5 0.851 0.320 4 87983034 3 prime UTR variant A/G snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs3804099
rs3804099
TLR2
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2013 2013
dbSNP: rs4505848
rs4505848
KIAA1109
8 0.776 0.400 4 122211337 intron variant A/G snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs6822844
rs6822844 		20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs6845297
rs6845297 		1 1.000 0.200 4 74393688 downstream gene variant G/A snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs936551
rs936551
CPLX1
1 1.000 0.200 4 827702 upstream gene variant A/G snv 0.52 0.700 1.000 1 2013 2013
dbSNP: rs17482078
rs17482078
ERAP1 ; LOC102724748
4 0.882 0.240 5 96783162 missense variant C/G;T snv 2.8E-05; 0.15 0.820 1.000 3 2013 2019