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: 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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2014 2016
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: rs267607040
rs267607040
SETBP1
5 0.851 0.320 18 44951948 missense variant G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs4149117
rs4149117
SLCO1B3 ; SLCO1B3-SLCO1B7
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.020 0.500 2 2011 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2014 2016
dbSNP: rs1057519772
rs1057519772
ABL1
1 1.000 0.080 9 130872895 missense variant A/G snv 0.700 1.000 1 2011 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: 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: rs121908587
rs121908587
PDGFRA
6 0.827 0.120 4 54278380 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs121913505
rs121913505
KIT
2 0.925 0.080 4 54695598 missense variant G/A snv 2.0E-05 0.010 1.000 1 1997 1997
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 < 0.001 1 2014 2014
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: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 < 0.001 1 2014 2014
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: rs1257378
rs1257378
PIWIL4 ; LOC105369438
1 1.000 0.080 11 94621792 intron variant A/T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs12573787
rs12573787
PTEN ; KLLN
1 1.000 0.080 10 87863959 5 prime UTR variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1343187782
rs1343187782
GOLGA4
1 1.000 0.080 3 37298923 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018