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: rs779315943
rs779315943
DNMT3A
5 0.882 0.160 2 25247708 frameshift variant TTTCC/- del 0.010 1.000 1 2015 2015
dbSNP: rs113478424
rs113478424
IRF5
1 1.000 0.080 7 128935744 upstream gene variant TTAGCTATTGCTCC/-;TTAGCTATTGCTCCTTAGCTATTGCTCC delins 0.700 1.000 1 2016 2016
dbSNP: rs17860508
rs17860508
LOC285626
11 0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 0.010 1.000 1 2016 2016
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.900 0.967 30 2007 2017
dbSNP: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.100 0.889 18 2006 2019
dbSNP: rs4917014
rs4917014 		8 0.807 0.360 7 50266267 upstream gene variant T/G snv 0.26 0.830 1.000 6 2009 2017
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.040 1.000 4 2000 2009
dbSNP: rs704840
rs704840
TNFSF4 ; LOC100506023
4 0.851 0.240 1 173257056 intergenic variant T/G snv 0.29 0.810 1.000 4 2013 2016
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.030 0.667 3 2012 2015
dbSNP: rs7192
rs7192
HLA-DRA
7 0.827 0.200 6 32443869 missense variant T/G snv 0.64 0.61 0.700 1.000 2 2008 2014
dbSNP: rs7775397
rs7775397
TSBP1 ; TSBP1-AS1
7 0.790 0.400 6 32293475 missense variant T/G snv 6.0E-02 6.4E-02 0.700 1.000 2 2008 2014
dbSNP: rs9937837
rs9937837
ITGAM
1 1.000 0.080 16 31287618 intron variant T/G snv 0.40 0.710 1.000 2 2011 2011
dbSNP: rs10499197
rs10499197 		2 0.925 0.080 6 137811379 intergenic variant T/G snv 2.4E-02 0.700 1.000 1 2013 2013
dbSNP: rs1057108
rs1057108
CREM
1 1.000 0.080 10 35196021 5 prime UTR variant T/G snv 0.34 0.34 0.010 1.000 1 2015 2015
dbSNP: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.010 1.000 1 2009 2009
dbSNP: rs1172908852
rs1172908852
NPL
1 1.000 0.080 1 182822176 missense variant T/G snv 0.010 1.000 1 2002 2002
dbSNP: rs1206255976
rs1206255976
C1QA
4 0.851 0.160 1 22637618 start lost T/G snv 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs17603856
rs17603856
ATXN1
1 1.000 0.080 6 16630667 intron variant T/G snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2017 2017
dbSNP: rs2049995
rs2049995
SH2D1A ; STAG2
1 1.000 0.080 X 124366141 intron variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs2246614
rs2246614
CDHR5
3 0.882 0.160 11 619789 missense variant T/G snv 0.63 0.59 0.010 1.000 1 2011 2011
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs2395174
rs2395174 		5 0.827 0.320 6 32437101 upstream gene variant T/G snv 0.24 0.700 1.000 1 2014 2014
dbSNP: rs3117582
rs3117582
BAG6 ; APOM
14 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.700 1.000 1 2014 2014