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: rs6458238
rs6458238
PGC
4 0.882 0.080 6 41749967 intron variant G/A;C snv 0.040 1.000 4 2013 2016
dbSNP: rs10739971
rs10739971
MIRLET7A1 ; MIRLET7F1
5 0.882 0.080 9 94175398 intron variant G/A;C snv 0.020 1.000 2 2014 2014
dbSNP: rs1002765
rs1002765
CHMP2B ; MIR4795
4 0.851 0.080 3 87227912 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1042194
rs1042194
CYP2C18
2 1.000 0.040 10 94735727 3 prime UTR variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs121434254
rs121434254
AIRE
6 0.807 0.200 21 44289773 stop gained C/A;T snv 7.5E-04 0.010 1.000 1 2001 2001
dbSNP: rs1440526066
rs1440526066
IL4 ; LOC105379176
1 1.000 0.040 5 132679827 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs254942
rs254942
ERCC4
3 0.882 0.080 16 13932150 splice region variant G/A;C;T snv 0.97; 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs3789210
rs3789210
PGC
3 0.882 0.080 6 41743584 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs7521584
rs7521584
MIR429
3 1.000 0.040 1 1168578 upstream gene variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs764097618
rs764097618
IL4R
1 1.000 0.040 16 27360794 splice donor variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs765803011
rs765803011
IL4R
1 1.000 0.040 16 27363094 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs7749023
rs7749023 		1 1.000 0.040 6 42093995 non coding transcript exon variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs830083
rs830083
DDB2
6 0.807 0.120 11 47232500 intron variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs12229892
rs12229892
PTPN11
6 0.807 0.240 12 112485589 intron variant G/A snv 1.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs10983755
rs10983755 		7 0.790 0.320 9 117702392 upstream gene variant G/A snv 3.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs17276588
rs17276588
HUWE1 ; MIRLET7F2 ; MIR98
4 0.882 0.120 X 53557457 intron variant G/A snv 9.0E-02 4.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs12423190
rs12423190
PTPN11
1 1.000 0.040 12 112471536 intron variant T/C snv 8.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs11536878
rs11536878
TLR4
5 0.827 0.240 9 117709275 intron variant C/A snv 9.5E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs10505799
rs10505799 		2 1.000 0.040 12 16293334 intergenic variant T/C snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs9981660
rs9981660 		3 0.882 0.080 21 42317828 upstream gene variant G/A snv 0.11 0.010 1.000 1 2013 2013
dbSNP: rs158916
rs158916
NDUFAF2
3 0.882 0.080 5 60949318 intron variant A/G snv 0.15 0.020 1.000 2 2015 2017
dbSNP: rs61516247
rs61516247
LINC00951 ; TDRG1
1 1.000 0.040 6 40344500 non coding transcript exon variant G/A snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs3814896
rs3814896
TFF2 ; LOC105372815
3 0.882 0.080 21 42351602 upstream gene variant A/G snv 0.17 0.010 1.000 1 2013 2013