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: 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: 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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2007 2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2009 2012
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2007 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2012 2019
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: rs305061
rs305061 		4 0.851 0.280 16 85942053 intron variant C/A;T snv 0.820 1.000 3 2010 2012
dbSNP: rs757978
rs757978
FARP2
4 0.851 0.200 2 241431686 missense variant C/A;T snv 4.1E-06; 9.3E-02 0.820 1.000 3 2010 2013
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: 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: rs2003869
rs2003869
LEF1
2 0.925 0.120 4 108105258 intron variant A/C;G;T snv 0.800 1.000 2 2013 2016
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2011 2011
dbSNP: rs2521269
rs2521269
TSPAN32 ; C11orf21
2 0.925 0.120 11 2299865 intron variant C/A;T snv 0.800 1.000 2 2013 2016
dbSNP: rs4368253
rs4368253 		2 0.925 0.120 18 59955055 TF binding site variant T/A;C snv 0.800 1.000 2 2013 2016
dbSNP: rs7169431
rs7169431 		2 0.925 0.200 15 56048698 intergenic variant A/G;T snv 0.720 1.000 2 2010 2010
dbSNP: rs7578199
rs7578199
HDLBP
2 0.925 0.120 2 241253433 missense variant T/C;G snv 0.19; 8.4E-05 0.800 1.000 2 2013 2016