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 0.030 0.667 3 2005 2019
dbSNP: rs2816316
rs2816316
LOC105371664
5 0.882 0.200 1 192567683 intron variant C/A snv 0.79 0.810 1.000 3 2008 2016
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.020 1.000 2 2012 2018
dbSNP: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.020 1.000 2 2012 2018
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.020 1.000 2 2011 2019
dbSNP: rs4445406
rs4445406
MMEL1
1 1.000 0.080 1 2607961 intron variant T/C snv 0.41 0.800 1.000 2 2011 2012
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.700 1.000 2 2015 2016
dbSNP: rs6691768
rs6691768
NFIA
1 1.000 0.080 1 61326191 intron variant G/A;C snv 0.800 1.000 2 2010 2016
dbSNP: rs879761216
rs879761216
CNR2
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.020 1.000 2 2012 2018
dbSNP: rs10754558
rs10754558
NLRP3
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10800746
rs10800746
INAVA
1 1.000 0.080 1 200912264 intron variant C/T snv 0.32 0.800 1.000 1 2011 2011
dbSNP: rs10903122
rs10903122 		5 0.882 0.200 1 24977085 intergenic variant A/G snv 0.56 0.800 1.000 1 2010 2010
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs1131498
rs1131498
SELL ; C1orf112
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 1.000 1 2006 2006
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: rs12068671
rs12068671 		2 0.925 0.160 1 172711891 intergenic variant T/C snv 0.23 0.800 1.000 1 2011 2011
dbSNP: rs12142280
rs12142280 		1 1.000 0.080 1 172895512 intron variant T/A snv 0.21 0.800 1.000 1 2011 2011
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 2005 2005
dbSNP: rs12727642
rs12727642 		1 1.000 0.080 1 7986612 upstream gene variant C/A snv 0.12 0.800 1.000 1 2010 2010
dbSNP: rs12734338
rs12734338
PPP1R12B
2 0.925 0.120 1 202500595 intron variant T/C snv 0.800 1.000 1 2013 2013
dbSNP: rs1359062
rs1359062
LOC105371664
2 0.925 0.160 1 192572342 intron variant C/A;G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs17849502
rs17849502
NCF2 ; SMG7
5 0.827 0.240 1 183563445 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 3.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs2066363
rs2066363
ADGRL2
14 0.724 0.240 1 81771892 intron variant C/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs2157453
rs2157453 		1 1.000 0.080 1 172894808 intron variant G/A snv 0.31 0.800 1.000 1 2014 2014
dbSNP: rs296547
rs296547
MROH3P
5 0.882 0.200 1 200923009 intron variant T/C snv 0.53 0.800 1.000 1 2010 2010