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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2014 2016
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.080 0.875 8 2011 2017
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: rs1057519758
rs1057519758
ABL1
1 1.000 0.080 9 130872153 missense variant T/G snv 0.700 1.000 5 2004 2014
dbSNP: rs1057519771
rs1057519771
ABL1
2 1.000 0.080 9 130872201 missense variant G/C snv 0.730 1.000 4 2009 2019
dbSNP: rs1057519772
rs1057519772
ABL1
1 1.000 0.080 9 130872895 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519773
rs1057519773
ABL1
4 0.851 0.160 9 130872901 missense variant T/A;C;G snv 0.710 1.000 2 2008 2011
dbSNP: rs1057519774
rs1057519774
ABL1
1 1.000 0.080 9 130872902 missense variant T/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519775
rs1057519775
ABL1
1 1.000 0.080 9 130873028 missense variant T/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519776
rs1057519776
CSF3R
1 1.000 0.080 1 36467843 missense variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519991
rs1057519991
TP53
26 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1060500091
rs1060500091
GATA2
4 0.882 0.120 3 128481887 missense variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1064156
rs1064156
ABL1
1 1.000 0.080 9 130878519 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs111340708
rs111340708
ATXN2 ; SH2B3
2 0.925 0.080 12 111447548 intron variant TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG delins 0.52 0.010 1.000 1 2016 2016
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2014 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2014 2016
dbSNP: rs1178702025
rs1178702025
SETBP1
1 1.000 0.080 18 44951912 missense variant G/A snv 0.700 0
dbSNP: rs1190999960
rs1190999960
ZNRD2 ; FAM89B ; ZNRD2-AS1
9 0.807 0.240 11 65571690 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1208076129
rs1208076129
POU5F1 ; TCF19
2 0.925 0.120 6 31164861 stop gained G/A snv 4.1E-06 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.917 12 2003 2019
dbSNP: rs121908587
rs121908587
PDGFRA
6 0.827 0.120 4 54278380 missense variant C/T snv 0.010 1.000 1 2012 2012
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: rs121913370
rs121913370
BRAF
10 0.763 0.360 7 140753393 missense variant T/C;G snv 0.700 1.000 2 2014 2014
dbSNP: rs121913448
rs121913448
ABL1
5 0.827 0.120 9 130862976 missense variant G/A snv 0.730 1.000 18 2001 2014
dbSNP: rs121913449
rs121913449
ABL1
1 1.000 0.080 9 130862977 missense variant A/T snv 0.700 1.000 10 2001 2014