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: rs7552167
rs7552167 		6 0.807 0.120 1 24192153 upstream gene variant A/G snv 0.87 0.700 1.000 1 2015 2015
dbSNP: rs7637230
rs7637230
LINC02085
2 0.925 0.040 3 101944711 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs7709212
rs7709212
LOC285626
2 0.925 0.040 5 159337169 intron variant T/C snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs892085
rs892085
QTRT1
2 0.925 0.040 19 10707416 intron variant G/A snv 0.57 0.59 0.700 1.000 1 2015 2015
dbSNP: rs9394026
rs9394026
MUC22
1 1.000 0.040 6 31014767 intron variant G/A snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs9988642
rs9988642
IL23R
3 0.882 0.080 1 67260421 downstream gene variant T/C snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs1010824
rs1010824 		1 1.000 0.040 8 107239685 intergenic variant G/A snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs1020760
rs1020760
NFKB1
2 0.925 0.040 4 102593288 non coding transcript exon variant C/G snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs10733113
rs10733113 		3 0.882 0.160 1 247459055 upstream gene variant A/G snv 0.81 0.010 1.000 1 2018 2018
dbSNP: rs10754557
rs10754557
NLRP3
1 1.000 0.040 1 247435930 intron variant G/A snv 0.59 0.51 0.010 1.000 1 2018 2018
dbSNP: rs10759932
rs10759932
TLR4
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs11652075
rs11652075
SGSH ; CARD14
3 0.882 0.040 17 80205094 missense variant C/T snv 0.41 0.40 0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs17728338
rs17728338 		4 0.851 0.160 5 151098757 downstream gene variant G/A snv 7.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2017 2017
dbSNP: rs1800024
rs1800024
CCR5 ; CCR5AS
2 0.925 0.080 3 46371068 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1868554
rs1868554
ANGPT2 ; MCPH1
1 1.000 0.040 8 6529226 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs201285077
rs201285077
CARD14
3 0.882 0.040 17 80198545 missense variant C/G;T snv 4.0E-06; 2.3E-04 3.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011
dbSNP: rs2248374
rs2248374
ERAP1 ; ERAP2
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.010 1.000 1 2018 2018
dbSNP: rs2287987
rs2287987
ERAP1
3 0.882 0.120 5 96793832 missense variant T/C snv 0.15 0.16 0.010 1.000 1 2018 2018
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2008 2008
dbSNP: rs2395029
rs2395029
HCP5
12 0.790 0.320 6 31464003 non coding transcript exon variant T/G snv 2.7E-02 2.4E-02 0.010 1.000 1 2020 2020
dbSNP: rs2442598
rs2442598
ANGPT2 ; MCPH1
2 0.925 0.120 8 6537300 intron variant T/C snv 0.71 0.010 1.000 1 2015 2015