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: rs10994982
rs10994982
ARID5B
7 0.790 0.120 10 61950345 intron variant A/G snv 0.49 0.710 1.000 3 2009 2019
dbSNP: rs2167364
rs2167364
DDC ; FIGNL1
1 1.000 0.120 7 50498129 intron variant T/C snv 0.30 0.800 1.000 2 2012 2013
dbSNP: rs540476365
rs540476365
SETD2
1 1.000 0.120 3 47121125 missense variant T/C snv 0.700 1.000 2 2014 2014
dbSNP: rs780963440
rs780963440
SETD2
1 1.000 0.120 3 47123960 missense variant G/A;C snv 5.0E-05; 1.3E-05 0.700 1.000 2 2014 2014
dbSNP: rs7896246
rs7896246
ARID5B
2 0.925 0.120 10 61964631 intron variant A/G snv 0.74 0.710 1.000 2 2013 2017
dbSNP: rs10261922
rs10261922 		1 1.000 0.120 7 50414314 intergenic variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1037351
rs1037351
DDC ; FIGNL1
1 1.000 0.120 7 50497706 intron variant T/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs1057519753
rs1057519753
JAK1
9 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs10821938
rs10821938
ARID5B
2 0.925 0.120 10 61965014 intron variant A/C snv 0.56 0.700 1.000 1 2013 2013
dbSNP: rs10899736
rs10899736
DDC ; FIGNL1
1 1.000 0.120 7 50479227 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs10949482
rs10949482
NHLRC1
1 1.000 0.120 6 18121083 3 prime UTR variant C/T snv 6.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs11013046
rs11013046
PIP4K2A
1 1.000 0.120 10 22551654 intron variant C/T snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs1110701
rs1110701 		1 1.000 0.120 7 50410929 intergenic variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs112141546
rs112141546
ADAMTS18
1 1.000 0.120 16 77367618 missense variant C/A;G;T snv 4.0E-06; 1.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs11575387
rs11575387
DDC ; FIGNL1
1 1.000 0.120 7 50499737 intron variant T/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs11575575
rs11575575
FIGNL1
1 1.000 0.120 7 50456510 intron variant C/A snv 7.5E-02 0.700 1.000 1 2013 2013
dbSNP: rs11770117
rs11770117 		2 1.000 0.120 7 50406065 downstream gene variant A/T snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs121913448
rs121913448
ABL1
5 0.827 0.120 9 130862976 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs12669559
rs12669559
IKZF1
3 1.000 0.120 7 50368079 synonymous variant T/G snv 0.35 0.32 0.700 1.000 1 2013 2013
dbSNP: rs12719019
rs12719019 		2 1.000 0.120 7 50408441 downstream gene variant C/T snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs12719039
rs12719039
IKZF1
1 1.000 0.120 7 50351251 intron variant T/C snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs12748152
rs12748152 		8 1.000 0.120 1 26811902 upstream gene variant C/T snv 5.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs12786200
rs12786200
FAT3
3 1.000 0.120 11 92245852 intergenic variant C/T snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs12887958
rs12887958 		1 1.000 0.120 14 23113360 downstream gene variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs1339159756
rs1339159756
JAK2 ; INSL6
2 0.925 0.120 9 5078395 missense variant C/G snv 0.010 1.000 1 2017 2017