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: rs72613567
rs72613567
HSD17B13
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
dbSNP: rs7270101
rs7270101
ITPA
10 0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02 0.070 1.000 7 2011 2018
dbSNP: rs1133763
rs1133763
CCL8
4 0.882 0.200 17 34320812 missense variant A/C snv 0.21 0.15 0.010 1.000 1 2003 2003
dbSNP: rs1486872705
rs1486872705
PAEP
3 0.882 0.120 9 135562884 missense variant A/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1539019
rs1539019
NLRP3
6 0.882 0.240 1 247436999 intron variant A/C snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs16851720
rs16851720
RNF7
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs2305482
rs2305482
PSMD3
4 0.851 0.200 17 39984674 intron variant A/C snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs3017887
rs3017887
NOX4
2 0.925 0.120 11 89492920 intron variant A/C snv 0.81 0.010 1.000 1 2015 2015
dbSNP: rs6051702
rs6051702
C20orf194
3 0.882 0.120 20 3271278 intron variant A/C snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs6726639
rs6726639
MERTK
1 1.000 0.080 2 111995520 intron variant A/C snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs7553796
rs7553796
IL6R
2 0.925 0.120 1 154431930 intron variant A/C snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs4969170
rs4969170
LOC101928674
11 0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 0.020 1.000 2 2012 2018
dbSNP: rs2228055
rs2228055
IL10RA
4 0.851 0.280 11 117994131 missense variant A/C;G snv 8.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs2647006
rs2647006 		1 1.000 0.080 6 32692805 intergenic variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs3212172
rs3212172
HNF4A
1 1.000 0.080 20 44399750 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs3817656
rs3817656
CCL5 ; LOC105371744
1 1.000 0.080 17 35872158 3 prime UTR variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs8878
rs8878
ART3 ; CXCL10
5 0.827 0.280 4 76021147 3 prime UTR variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs2287622
rs2287622
ABCB11
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.030 1.000 3 2011 2018
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs179008
rs179008
TLR7
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.040 1.000 4 2008 2018
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.020 1.000 2 2018 2018
dbSNP: rs179019
rs179019
TLR7
3 0.882 0.160 X 12871850 intron variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12980275
rs12980275 		23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.100 1.000 18 2011 2019