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: rs6967330
rs6967330
CDHR3
8 0.827 0.120 7 106018005 missense variant G/A snv 0.19 0.21 0.060 1.000 6 2015 2020
dbSNP: rs11078927
rs11078927
GSDMB
3 0.925 0.080 17 39908152 intron variant C/T snv 0.40 0.35 0.820 1.000 5 2011 2018
dbSNP: rs2070874
rs2070874
IL4
27 0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28 0.050 1.000 5 2011 2016
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.050 1.000 5 2011 2020
dbSNP: rs2290400
rs2290400
GSDMB
9 0.790 0.360 17 39909987 intron variant T/C snv 0.48 0.820 1.000 5 2010 2016
dbSNP: rs2872507
rs2872507 		12 0.752 0.360 17 39884510 intergenic variant G/A;T snv 0.720 1.000 5 2010 2012
dbSNP: rs34290285
rs34290285
D2HGDH
8 0.851 0.120 2 241759225 intron variant G/A snv 0.27 0.700 1.000 5 2016 2019
dbSNP: rs3894194
rs3894194
GSDMA
3 0.882 0.120 17 39965740 missense variant G/A snv 0.46 0.41 0.810 1.000 5 2010 2014
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.050 1.000 5 2010 2017
dbSNP: rs549908
rs549908
IL18
10 0.752 0.440 11 112150193 synonymous variant T/A;G snv 4.2E-06; 0.29 0.050 1.000 5 2003 2019
dbSNP: rs5743618
rs5743618
TLR1
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.720 1.000 5 2014 2019
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.050 1.000 5 2014 2020
dbSNP: rs8069176
rs8069176 		4 0.882 0.080 17 39900944 downstream gene variant G/A;T snv 0.740 1.000 5 2008 2018
dbSNP: rs907092
rs907092
IKZF3
3 0.925 0.080 17 39766006 synonymous variant G/A snv 0.41 0.36 0.810 1.000 5 2010 2019
dbSNP: rs992969
rs992969 		4 0.882 0.080 9 6209697 intergenic variant A/G;T snv 0.810 1.000 5 2010 2019
dbSNP: rs12603332
rs12603332
ORMDL3 ; LRRC3C ; LOC112268187
7 0.807 0.200 17 39926554 5 prime UTR variant T/C snv 0.49 0.730 1.000 4 2008 2017
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.040 1.000 4 2014 2019
dbSNP: rs1805011
rs1805011
IL4R
8 0.776 0.320 16 27362551 missense variant A/C;G;T snv 0.13; 1.2E-04; 3.6E-05 0.040 1.000 4 2010 2016
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.040 1.000 4 2012 2017
dbSNP: rs324011
rs324011
STAT6
12 0.742 0.360 12 57108399 intron variant C/T snv 0.32 0.040 0.750 4 2012 2018
dbSNP: rs3771180
rs3771180
IL18R1 ; IL1RL1
2 1.000 0.080 2 102337157 5 prime UTR variant G/A;T snv 0.820 1.000 4 2011 2019
dbSNP: rs37972
rs37972
GLCCI1 ; UMAD1 ; GLCCI1-DT
5 0.851 0.160 7 7967878 3 prime UTR variant T/A;C snv 0.040 0.750 4 2014 2019
dbSNP: rs3859192
rs3859192
GSDMA
3 0.925 0.080 17 39972395 intron variant C/T snv 0.42 0.820 1.000 4 2010 2016
dbSNP: rs40401
rs40401
IL3 ; LOC105379174
8 0.776 0.440 5 132060785 missense variant C/T snv 0.29 0.33 0.040 1.000 4 2004 2014
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.040 1.000 4 2014 2019