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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.090 0.889 9 2005 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2018
dbSNP: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.020 1.000 2 2014 2018
dbSNP: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.020 1.000 2 2011 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2005 2010
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2005 2015
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2005 2015
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 0.500 2 2013 2015
dbSNP: rs12046117
rs12046117
VTCN1
1 1.000 0.120 1 117208743 intron variant C/T snv 0.16 0.800 1.000 1 2009 2009
dbSNP: rs12411988
rs12411988
REEP3
1 1.000 0.120 10 63555637 intron variant G/C snv 0.12 0.800 1.000 1 2012 2012
dbSNP: rs12719740
rs12719740
FAM169B
1 1.000 0.120 15 98529676 intron variant G/A snv 0.21 0.800 1.000 1 2012 2012
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: rs4688011
rs4688011
TIMMDC1
1 1.000 0.120 3 119508400 intron variant G/A;C snv 0.15 0.800 1.000 1 2012 2012
dbSNP: rs6479891
rs6479891
JMJD1C
1 1.000 0.120 10 63246696 intron variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs10128264
rs10128264
ZMIZ1
1 1.000 0.120 10 79200216 intron variant T/C snv 0.64 0.700 1.000 1 2014 2014
dbSNP: rs10761744
rs10761744
JMJD1C
1 1.000 0.120 10 63341266 intron variant C/G;T snv 0.87 0.700 1.000 1 2012 2012
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: rs10822050
rs10822050 		14 0.724 0.240 10 62679011 downstream gene variant T/C snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs10956445
rs10956445
CCDC26
1 1.000 0.120 8 128775730 intron variant T/C snv 0.20 0.700 1.000 1 2014 2014
dbSNP: rs10988542
rs10988542
FNBP1
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763
CARD9
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11225055
rs11225055
ANGPTL5
1 1.000 0.120 11 101900702 intron variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs114846446
rs114846446
LINC01250
14 0.724 0.240 2 2944140 intron variant G/A snv 9.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs11580078
rs11580078
IL23R ; C1orf141
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs117372389
rs117372389
NKD1
14 0.724 0.240 16 50634166 3 prime UTR variant G/T snv 1.1E-02 0.700 1.000 1 2015 2015