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: rs2305480
rs2305480
GSDMB
10 0.763 0.280 17 39905943 missense variant G/A snv 0.40 0.35 0.820 0.750 4 2007 2016
dbSNP: rs2378383
rs2378383 		1 1.000 0.080 9 79424447 intergenic variant A/C;G;T snv 0.810 1.000 1 2009 2009
dbSNP: rs3894194
rs3894194
GSDMA
3 0.882 0.120 17 39965740 missense variant G/A snv 0.46 0.41 0.800 1.000 2 2007 2014
dbSNP: rs8069176
rs8069176 		4 0.882 0.080 17 39900944 downstream gene variant G/A;T snv 0.800 1.000 2 2007 2018
dbSNP: rs11000019
rs11000019
PSAP
1 1.000 0.080 10 71831773 intron variant G/A snv 3.3E-02 0.800 1.000 1 2013 2013
dbSNP: rs12570188
rs12570188
HPSE2
1 1.000 0.080 10 99095945 intron variant C/T snv 1.5E-02 0.800 1.000 1 2013 2013
dbSNP: rs16929097
rs16929097 		1 1.000 0.080 9 12521826 intergenic variant G/A snv 4.7E-02 0.800 1.000 1 2013 2013
dbSNP: rs17033506
rs17033506 		1 1.000 0.080 3 35598334 intergenic variant G/T snv 2.8E-02 0.800 1.000 1 2013 2013
dbSNP: rs17218161
rs17218161 		1 1.000 0.080 4 58347679 intergenic variant T/C snv 4.3E-03 0.800 1.000 1 2013 2013
dbSNP: rs35141484
rs35141484
KLHL5 ; LOC105374418
1 1.000 0.080 4 39086721 synonymous variant A/C snv 5.6E-03 2.2E-02 0.800 1.000 1 2013 2013
dbSNP: rs6054973
rs6054973 		1 1.000 0.080 20 7405311 intergenic variant T/C snv 4.8E-02 0.800 1.000 1 2013 2013
dbSNP: rs6721181
rs6721181
SLC8A1-AS1
1 1.000 0.080 2 39888556 intron variant C/T snv 2.2E-02 0.800 1.000 1 2013 2013
dbSNP: rs7770848
rs7770848
LOC101929770
1 1.000 0.080 6 44801500 intron variant T/G snv 3.1E-02 0.800 1.000 1 2013 2013
dbSNP: rs7927044
rs7927044 		2 0.925 0.080 11 127891771 intergenic variant G/A snv 2.3E-02 0.800 1.000 1 2012 2012
dbSNP: rs886448
rs886448
LOC107986777
3 0.882 0.120 7 24200546 intron variant G/A snv 1.4E-03 0.800 1.000 1 2013 2013
dbSNP: rs9297216
rs9297216
LOC105379365
1 1.000 0.080 8 34187743 intron variant C/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs9815663
rs9815663 		2 0.925 0.080 3 3573203 intron variant C/T snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs9823506
rs9823506
ABI3BP
1 1.000 0.080 3 100757869 intron variant C/T snv 4.3E-02 0.800 1.000 1 2013 2013
dbSNP: rs9883878
rs9883878 		1 1.000 0.080 3 178137844 intron variant G/A snv 3.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs6967330
rs6967330
CDHR3
8 0.827 0.120 7 106018005 missense variant G/A snv 0.19 0.21 0.740 1.000 5 2014 2019
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.710 1.000 2 2007 2019
dbSNP: rs59289606
rs59289606
KIAA1958
1 1.000 0.080 9 112563085 intron variant C/A snv 0.16 0.710 1.000 1 2018 2018
dbSNP: rs479844
rs479844 		6 0.851 0.160 11 65784486 upstream gene variant A/G snv 0.44 0.700 1.000 3 2015 2019
dbSNP: rs11071559
rs11071559
RORA
4 0.925 0.080 15 60777789 intron variant C/T snv 0.23 0.700 1.000 2 2019 2019
dbSNP: rs12023876
rs12023876
ADORA1
2 0.925 0.080 1 203124073 intron variant G/A;T snv 0.700 1.000 2 2019 2019