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: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1257378
rs1257378
PIWIL4 ; LOC105369438
1 1.000 0.080 11 94621792 intron variant A/T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs2043211
rs2043211
CARD8
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 1.000 1 2018 2018
dbSNP: rs137852975
rs137852975
BSCL2 ; HNRNPUL2-BSCL2
5 0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05 0.020 1.000 2 2007 2016
dbSNP: rs1483790387
rs1483790387
TMED7 ; TMED7-TICAM2
2 0.925 0.120 5 115625762 missense variant C/A snv 0.010 1.000 1 2014 2014
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs121913451
rs121913451
ABL1
4 0.851 0.160 9 130872903 missense variant C/A;G snv 0.710 1.000 12 2002 2014
dbSNP: rs766124888
rs766124888
BCR
1 1.000 0.080 22 23253817 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 2 2012 2014
dbSNP: rs121913455
rs121913455
ABL1
1 1.000 0.080 9 130862955 missense variant C/G snv 0.700 1.000 6 2003 2014
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 2019 2019
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs9610915
rs9610915
MAFF
1 1.000 0.080 22 38215073 3 prime UTR variant C/G snv 0.48 0.41 0.010 1.000 1 2014 2014
dbSNP: rs3740066
rs3740066
ABCC2
20 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 0.010 1.000 1 2014 2014
dbSNP: rs121913459
rs121913459
ABL1
25 0.672 0.160 9 130872896 missense variant C/T snv 0.800 0.943 105 2001 2020
dbSNP: rs1360131632
rs1360131632
STAT5A
6 0.827 0.080 17 42301316 missense variant C/T snv 4.0E-06 0.040 1.000 4 2012 2018
dbSNP: rs121908587
rs121908587
PDGFRA
6 0.827 0.120 4 54278380 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs121913516
rs121913516
KIT
6 1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1250394819
rs1250394819
TMED7 ; TMED7-TICAM2 ; LOC101927100
9 0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1407906280
rs1407906280
MDM2
3 0.882 0.120 12 68839467 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs281860566
rs281860566
HLA-B ; HLA-C
1 1.000 0.080 6 31270339 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs3092856
rs3092856
ATM
3 0.882 0.120 11 108289005 missense variant C/T snv 1.2E-02 2.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs375912312
rs375912312
EPHA8
1 1.000 0.080 1 22588916 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs6503691
rs6503691
STAT5B
5 0.827 0.200 17 42242072 intron variant C/T snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs717620
rs717620
ABCC2
10 0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 0.010 1.000 1 2018 2018