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: rs1799946
rs1799946
DEFB1
13 0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41 0.010 1.000 1 2010 2010
dbSNP: rs1800972
rs1800972
DEFB1
16 0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79 0.010 1.000 1 2010 2010
dbSNP: rs2066446
rs2066446
IL12RB2
2 0.925 0.120 1 67315434 intron variant A/G snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs438421
rs438421
IL12RB1
3 0.882 0.200 19 18065276 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs60978485
rs60978485
SPINK5
2 0.925 0.120 5 148091116 intron variant A/T snv 4.5E-02; 4.2E-06 3.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs10067777
rs10067777
TMEM232
1 1.000 0.120 5 110490595 intron variant A/G snv 7.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs17173197
rs17173197
PRKAG2
1 1.000 0.120 7 151571834 non coding transcript exon variant C/T snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs2251746
rs2251746
FCER1A
3 0.882 0.120 1 159302270 intron variant T/C snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs2393903
rs2393903
ZNF365
1 1.000 0.120 10 62620576 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs28665122
rs28665122
SELENOS
7 0.807 0.240 15 101277522 upstream gene variant C/T snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs512685
rs512685
ZC3H12D
1 1.000 0.120 6 149471889 intron variant G/A snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs569108
rs569108
MS4A2
8 0.790 0.200 11 60095631 missense variant A/G snv 4.7E-02 7.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs5744292
rs5744292
IL18
4 0.851 0.200 11 112143413 3 prime UTR variant T/C snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs574456
rs574456
LRP1B
3 0.882 0.160 2 140644133 intron variant A/T snv 8.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs7000782
rs7000782 		1 1.000 0.120 8 80395915 intron variant T/A snv 0.54 0.800 1.000 1 2011 2011
dbSNP: rs7701890
rs7701890
TMEM232
1 1.000 0.120 5 110523120 intron variant A/G snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs2303067
rs2303067
SPINK5
5 0.851 0.160 5 148101392 missense variant A/G snv 0.52 0.44 0.060 1.000 6 2004 2012
dbSNP: rs11204971
rs11204971
FLG-AS1
2 0.925 0.120 1 152286602 intron variant A/G snv 0.15 0.710 1.000 2 2011 2012
dbSNP: rs13360927
rs13360927
TMEM232
3 0.882 0.160 5 110700055 intron variant A/G snv 9.3E-02 0.710 1.000 2 2011 2012
dbSNP: rs13361382
rs13361382
TMEM232
3 0.882 0.160 5 110713253 intron variant G/A snv 9.3E-02 0.710 1.000 2 2011 2012
dbSNP: rs2303063
rs2303063
SPINK5
4 0.882 0.160 5 148100464 missense variant G/A snv 0.52 0.44 0.020 1.000 2 2005 2012
dbSNP: rs2303064
rs2303064
SPINK5
2 0.925 0.120 5 148100517 missense variant G/A snv 0.20 0.25 0.020 1.000 2 2010 2012
dbSNP: rs2303070
rs2303070
SPINK5
3 0.882 0.120 5 148120328 missense variant G/A;C;T snv 0.13 0.020 1.000 2 2011 2012
dbSNP: rs3126085
rs3126085
FLG-AS1
5 0.851 0.280 1 152328341 intron variant G/A snv 0.29 0.810 1.000 2 2011 2012
dbSNP: rs10995251
rs10995251
ZNF365 ; LOC105378327
1 1.000 0.120 10 62638706 intron variant C/T snv 0.29 0.800 1.000 1 2012 2012