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: 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: 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: rs2297518
rs2297518
NOS2
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 1.000 1 2008 2008
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: rs2301756
rs2301756
PTPN11
4 0.851 0.120 12 112452972 intron variant A/G snv 0.21 0.020 1.000 2 2009 2009
dbSNP: rs6672420
rs6672420
RUNX3 ; LOC105376878
6 0.827 0.120 1 24964519 missense variant A/T snv 0.56 0.50 0.010 < 0.001 1 2009 2009
dbSNP: rs760805
rs760805
RUNX3 ; LOC107984932
9 0.776 0.240 1 24925432 intron variant A/T snv 0.42 0.010 1.000 1 2009 2009
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2010 2010
dbSNP: rs3805246
rs3805246
GAB1
3 0.882 0.120 4 143382955 intron variant G/A snv 0.31 0.010 < 0.001 1 2010 2010
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2011 2011
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: rs2014486
rs2014486
MUC5B
2 1.000 0.040 11 1237573 intron variant A/G snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs7481521
rs7481521
MUC6
1 1.000 0.040 11 1027811 missense variant C/T snv 0.50 0.47 0.010 1.000 1 2012 2012
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: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.720 1.000 3 2013 2019
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: rs10505799
rs10505799 		2 1.000 0.040 12 16293334 intergenic variant T/C snv 0.10 0.010 1.000 1 2013 2013
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: 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: 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
dbSNP: rs4711690
rs4711690
PGC
3 0.882 0.080 6 41741200 missense variant C/G snv 0.19 0.20 0.010 1.000 1 2013 2013
dbSNP: rs6498486
rs6498486
ERCC4
8 0.776 0.200 16 13919809 upstream gene variant A/C snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs6878265
rs6878265 		2 1.000 0.040 5 120069960 intergenic variant C/T snv 0.29 0.010 1.000 1 2013 2013