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: rs121913459
rs121913459
ABL1
25 0.672 0.160 9 130872896 missense variant C/T snv 0.100 1.000 18 2004 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.040 1.000 4 2011 2018
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.040 1.000 4 2007 2018
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.040 1.000 4 2007 2018
dbSNP: rs121913514
rs121913514
KIT
12 0.763 0.240 4 54733174 missense variant T/A;G snv 0.030 1.000 3 2011 2019
dbSNP: rs397507476
rs397507476
BRAF
4 0.882 0.200 7 140778011 missense variant T/A;G snv 0.700 1.000 3 2006 2009
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 < 0.001 2 2012 2016
dbSNP: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2014 2016
dbSNP: rs121913521
rs121913521
KIT
12 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.020 1.000 2 2015 2019
dbSNP: rs387906659
rs387906659
AKT2
14 0.742 0.280 19 40257052 stop gained C/A;T snv 0.020 1.000 2 2007 2008
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2001 2006
dbSNP: rs74315450
rs74315450
RUNX1
5 0.851 0.120 21 34859485 missense variant C/T snv 0.020 1.000 2 2012 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 < 0.001 2 2012 2016
dbSNP: rs10065633
rs10065633
IRF1-AS1
1 1.000 0.040 5 132481024 intron variant T/C snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs10251201
rs10251201
UMAD1
4 0.851 0.160 7 7932654 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs10405859
rs10405859
MARK4 ; PPP1R37
3 0.882 0.080 19 45099523 intron variant T/C snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1057519753
rs1057519753
JAK1
9 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1057519766
rs1057519766
FLT3
5 0.851 0.080 13 28028203 missense variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1057519866
rs1057519866
NT5C2
5 0.851 0.120 10 103093198 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs10740055
rs10740055
ARID5B
7 0.790 0.240 10 61958720 intron variant C/A snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs10821936
rs10821936
ARID5B
11 0.742 0.200 10 61963818 intron variant C/T snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs10931910
rs10931910
AOX1
2 0.925 0.040 2 200659013 intron variant A/G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs11079041
rs11079041
STAT5B
4 0.882 0.040 17 42262061 intron variant T/A;C snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs113017087
rs113017087
APC
1 1.000 0.040 5 112737780 intron variant T/C snv 5.4E-03 0.010 1.000 1 2016 2016