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: rs735665
rs735665
GRAMD1B
8 0.776 0.280 11 123490689 intron variant G/A snv 0.15 0.840 1.000 7 2008 2018
dbSNP: rs872071
rs872071
IRF4
13 0.742 0.360 6 411064 3 prime UTR variant A/G;T snv 0.840 1.000 7 2008 2014
dbSNP: rs13397985
rs13397985
SP110 ; SP140
5 0.827 0.280 2 230226508 intron variant T/C;G snv 0.830 1.000 6 2008 2014
dbSNP: rs7176508
rs7176508
DRAIC
4 0.851 0.280 15 69726651 intron variant A/G snv 0.67 0.830 1.000 6 2008 2014
dbSNP: rs1057519825
rs1057519825
BTK
7 0.882 0.120 X 101356176 missense variant C/G snv 0.050 1.000 5 2015 2018
dbSNP: rs1057519826
rs1057519826
BTK
7 0.882 0.120 X 101356177 missense variant A/T snv 0.050 1.000 5 2015 2018
dbSNP: rs17483466
rs17483466
ACOXL ; MIR4435-2HG
5 0.827 0.280 2 111039881 intron variant A/G snv 0.15 0.830 1.000 5 2008 2013
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2012 2019
dbSNP: rs210142
rs210142
BAK1 ; GGNBP1
3 0.925 0.120 6 33579060 intron variant T/C snv 0.74 0.820 1.000 3 2012 2013
dbSNP: rs305061
rs305061 		4 0.851 0.280 16 85942053 intron variant C/A;T snv 0.820 1.000 3 2010 2012
dbSNP: rs35923643
rs35923643
GRAMD1B
3 0.925 0.120 11 123484683 intron variant A/G snv 0.15 0.710 1.000 3 2016 2018
dbSNP: rs8024033
rs8024033 		2 0.925 0.120 15 40111456 upstream gene variant C/G snv 0.50 0.800 1.000 3 2013 2017
dbSNP: rs9880772
rs9880772 		5 0.827 0.240 3 27736288 intergenic variant G/A snv 0.59 0.700 1.000 3 2016 2017
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.800 1.000 2 2013 2019
dbSNP: rs1036935
rs1036935 		2 0.925 0.120 18 50317164 upstream gene variant A/G;T snv 0.710 1.000 2 2011 2017
dbSNP: rs1044873
rs1044873
IRF8
2 0.925 0.120 16 85922065 3 prime UTR variant C/T snv 0.40 0.810 1.000 2 2013 2014
dbSNP: rs1057519831
rs1057519831
PLCG2
3 1.000 0.120 16 81912655 missense variant C/T snv 0.710 1.000 2 2014 2015
dbSNP: rs1057519832
rs1057519832
PLCG2
1 1.000 0.120 16 81928578 missense variant A/C;G;T snv 0.710 1.000 2 2014 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2007 2019
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.710 1.000 2 1997 2016
dbSNP: rs121913348
rs121913348
BRAF
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 2 2007 2014
dbSNP: rs1359742
rs1359742 		2 0.925 0.120 9 22336997 intergenic variant G/C;T snv 0.800 1.000 2 2013 2016
dbSNP: rs140522
rs140522
ODF3B
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.700 1.000 2 2017 2019
dbSNP: rs1679013
rs1679013 		3 0.882 0.160 9 22206988 intron variant C/A;T snv 0.43 0.800 1.000 2 2013 2017
dbSNP: rs2003869
rs2003869
LEF1
2 0.925 0.120 4 108105258 intron variant A/C;G;T snv 0.800 1.000 2 2013 2016