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: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.100 1.000 13 2002 2015
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.060 0.833 6 2004 2016
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.030 1.000 3 2016 2019
dbSNP: rs3731865
rs3731865
SLC11A1
5 0.882 0.160 2 218385280 non coding transcript exon variant G/A;C;T snv 0.23; 1.4E-04 0.030 1.000 3 2009 2015
dbSNP: rs3745274
rs3745274
CYP2B6
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.030 1.000 3 2014 2019
dbSNP: rs414171
rs414171
CISH ; MAPKAPK3
9 0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv 0.030 1.000 3 2014 2014
dbSNP: rs7096206
rs7096206
MBL2
17 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 0.030 1.000 3 2014 2018
dbSNP: rs1718119
rs1718119
P2RX7 ; LOC105370032
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.020 1.000 2 2017 2019
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.020 1.000 2 2019 2020
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.020 1.000 2 2012 2013
dbSNP: rs3751143
rs3751143
P2RX7 ; LOC105370032
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.020 1.000 2 2013 2019
dbSNP: rs6695096
rs6695096
MASP2
1 1.000 0.040 1 11034982 intron variant C/A;T snv 0.020 1.000 2 2014 2015
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 2016 2016
dbSNP: rs7749390
rs7749390
IFNGR1
3 0.882 0.120 6 137219233 5 prime UTR variant A/G;T snv 0.43; 4.4E-06 0.020 1.000 2 2010 2014
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2017 2017
dbSNP: rs1045481
rs1045481
GEMIN4
1 1.000 0.040 17 744917 missense variant G/A;C snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs1052632
rs1052632
MR1
2 0.925 0.080 1 181051094 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10754558
rs10754558
NLRP3
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10766197
rs10766197
CYP2R1
6 0.807 0.240 11 14900334 upstream gene variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs10774671
rs10774671
OAS1
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs11040
rs11040
TENT5A
1 1.000 0.040 6 81752132 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11045819
rs11045819
SLCO1B1
4 0.851 0.120 12 21176879 missense variant C/A;T snv 0.11; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1131454
rs1131454
OAS1
3 0.882 0.040 12 112911065 missense variant G/A;C snv 0.57 0.010 1.000 1 2018 2018