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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 0.667 3 2012 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 0.667 3 2012 2015
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.710 1.000 2 2012 2016
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.020 1.000 2 2005 2013
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2005 2013
dbSNP: rs267607040
rs267607040
SETBP1
5 0.851 0.320 18 44951948 missense variant G/A snv 0.700 1.000 2 2013 2013
dbSNP: rs267607042
rs267607042
SETBP1
5 0.851 0.320 18 44951942 missense variant G/A;C snv 0.700 1.000 2 2013 2013
dbSNP: rs387906631
rs387906631
GATA2
6 0.882 0.080 3 128481901 missense variant G/A snv 0.820 1.000 2 2011 2012
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519960
rs1057519960
SF3B2
7 0.827 0.280 11 66063413 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520007
rs1057520007
TP53
21 0.701 0.440 17 7674917 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1131691041
rs1131691041
TP53
3 17 7676271 frameshift variant -/A delins 0.010 1.000 1 2017 2017
dbSNP: rs1178981336
rs1178981336
C9orf43
2 1.000 0.040 9 113424228 frameshift variant -/G delins 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121434595
rs121434595
NRAS
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913488
rs121913488
FLT3
7 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs1265794840
rs1265794840
ERCC2
6 0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1408538785
rs1408538785
DNAH8
6 0.827 0.080 6 38761760 missense variant A/G snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1464681682
rs1464681682
U2AF1L5 ; LOC102724701 ; LOC102724843
6 0.882 0.160 21 6486334 missense variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1470755915
rs1470755915
RUNX1T1
10 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs1801320
rs1801320
RAD51 ; RAD51-AS1
15 0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs2267437
rs2267437
XRCC6 ; DESI1
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.010 1.000 1 2016 2016