Source: CURATED ×
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: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
4 0.701 0.360 20 63678486 intron variant A/C;G snv 0.810 0.667 2 2011 2015
dbSNP: rs2228145
rs2228145
IL6R
12 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.710 1.000 1 2013 2015
dbSNP: rs479844
rs479844 		5 0.851 0.160 11 65784486 upstream gene variant A/G snv 0.44 0.820 1.000 3 2011 2015
dbSNP: rs176095
rs176095
PBX2 ; GPSM3
3 0.925 0.160 6 32190542 upstream gene variant A/G snv 0.22 0.800 1.000 2 2012 2015
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: rs11204971
rs11204971
FLG-AS1
1 0.925 0.120 1 152286602 intron variant A/G snv 0.15 0.710 1.000 1 2011 2012
dbSNP: rs112111458
rs112111458 		1 0.925 0.120 2 70872975 intergenic variant A/G snv 0.16 0.710 1.000 1 2015 2017
dbSNP: rs12130219
rs12130219
PUDPP2 ; FLG-AS1 ; LOC112268240
2 0.925 0.120 1 152189630 non coding transcript exon variant A/G snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs1295685
rs1295685
IL13 ; TH2LCRR
5 0.790 0.160 5 132660753 3 prime UTR variant A/G snv 0.81 0.700 1.000 1 2013 2013
dbSNP: rs13360927
rs13360927
TMEM232
1 0.882 0.160 5 110700055 intron variant A/G snv 9.3E-02 0.710 1.000 1 2011 2012
dbSNP: rs1444418
rs1444418 		1 1.000 0.120 10 62800710 intron variant A/G snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs1528473
rs1528473 		2 0.925 0.120 15 55094545 downstream gene variant A/G snv 7.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs16999165
rs16999165 		1 1.000 0.120 20 54190682 intergenic variant A/G snv 5.5E-02 0.800 1.000 1 2012 2012
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
8 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.700 1.000 1 2013 2013
dbSNP: rs2158177
rs2158177
TH2LCRR
4 0.925 0.120 5 132648366 intron variant A/G snv 0.18 0.710 1.000 1 2013 2017
dbSNP: rs2844509
rs2844509
DDX39B ; SNORD84 ; ATP6V1G2-DDX39B ; DDX39B-AS1
6 0.882 0.160 6 31543147 intron variant A/G snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs3091307
rs3091307
TH2LCRR
5 0.925 0.160 5 132653444 intron variant A/G snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs7130588
rs7130588 		3 0.882 0.200 11 76559639 regulatory region variant A/G snv 0.29 0.800 1.000 1 2013 2013
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: rs7815944
rs7815944
LINC00824
1 1.000 0.120 8 128415272 intron variant A/G snv 0.12 0.800 1.000 1 2012 2012
dbSNP: rs9357733
rs9357733
EFHC1
2 0.851 0.160 6 52427338 intron variant A/G snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs10791824
rs10791824
OVOL1 ; OVOL1-AS1
3 0.882 0.160 11 65791795 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1665050
rs1665050
RNF111
1 1.000 0.120 15 59001406 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2918307
rs2918307 		1 1.000 0.120 19 8679458 downstream gene variant A/G;T snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs11205006
rs11205006 		1 1.000 0.120 1 152467700 intergenic variant A/T snv 0.72 0.700 1.000 1 2015 2015