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: rs9414788
rs9414788
JMJD1C
1 1.000 0.120 10 63296952 intron variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs9415699
rs9415699
JMJD1C
1 1.000 0.120 10 63383798 intron variant T/C snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs9415705
rs9415705
JMJD1C
1 1.000 0.120 10 63401790 intron variant T/G snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs953387
rs953387 		1 1.000 0.120 2 136149600 intergenic variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2240337
rs2240337
PADI4
2 0.925 0.200 1 17347727 intron variant C/T snv 9.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs10761745
rs10761745
JMJD1C
3 0.882 0.240 10 63341311 intron variant G/C snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs10919563
rs10919563
PTPRC
3 0.925 0.120 1 198731313 intron variant G/A snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs2395148
rs2395148
TSBP1 ; TSBP1-AS1
3 0.882 0.200 6 32353777 intron variant G/T snv 4.6E-02 0.800 1.000 1 2008 2008
dbSNP: rs12917716
rs12917716
CLEC16A
4 0.851 0.200 16 11095291 intron variant G/C snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs17435
rs17435
MECP2
4 0.851 0.200 X 154046529 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs10931481
rs10931481
STAT4
5 0.827 0.240 2 191090126 intron variant G/A snv 0.66 0.010 1.000 1 2019 2019
dbSNP: rs11893432
rs11893432
STAT4
5 0.827 0.120 2 191057148 intron variant C/G snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs2348071
rs2348071
PSMA3 ; ARMH4
5 0.827 0.240 14 58263908 intron variant A/G snv 0.71 0.010 1.000 1 2014 2014
dbSNP: rs2372536
rs2372536
ATIC
5 0.827 0.160 2 215325297 missense variant C/G snv 0.33 0.25 0.010 1.000 1 2015 2015
dbSNP: rs4750316
rs4750316
LINC02649 ; LINC02656
5 0.882 0.160 10 6351298 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6498169
rs6498169
CLEC16A
6 0.807 0.280 16 11155472 non coding transcript exon variant G/A snv 0.66 0.010 1.000 1 2010 2010
dbSNP: rs11466018
rs11466018
MEFV
7 0.827 0.200 16 3254739 missense variant A/G snv 6.6E-03 2.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs12708716
rs12708716
CLEC16A
7 0.807 0.320 16 11086016 intron variant A/G snv 0.37 0.010 1.000 1 2010 2010
dbSNP: rs7234029
rs7234029
PTPN2
7 0.807 0.320 18 12877061 intron variant A/G snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs3807306
rs3807306
IRF5
8 0.776 0.320 7 128940626 intron variant G/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs41295061
rs41295061 		8 0.790 0.360 10 6072697 upstream gene variant C/A snv 6.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs1004819
rs1004819
IL23R ; C1orf141
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1980422
rs1980422 		9 0.776 0.320 2 203745673 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs10499194
rs10499194 		10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 1.000 1 2009 2009