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 0.020 0.500 2 2012 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2012 2015
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1057519766
rs1057519766
FLT3
5 0.851 0.080 13 28028203 missense variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519802
rs1057519802
CSF1R
2 5 150061765 missense variant A/C snv 0.700 1.000 1 2009 2009
dbSNP: rs1057520014
rs1057520014
CSF1R
1 5 150073480 missense variant C/A snv 0.700 1.000 1 1990 1990
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs121913390
rs121913390
CSF1R
2 5 150073481 stop gained A/G;T snv 0.700 1.000 1 1990 1990
dbSNP: rs121913393
rs121913393
CSF1R
2 5 150054083 missense variant A/G snv 0.700 1.000 1 1990 1990
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 1.000 1 2006 2006
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913512
rs121913512
KIT
9 0.851 0.120 4 54728055 missense variant A/C;G snv 0.700 1.000 1 2001 2001
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121918453
rs121918453
PTPN11
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121918454
rs121918454
PTPN11
17 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs1239105602
rs1239105602
PTEN ; KLLN
2 1.000 0.160 10 87864168 5 prime UTR variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs13347
rs13347
CD44
12 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1800023
rs1800023
CCR5 ; CCR5AS
2 1.000 0.040 3 46370817 intron variant A/G snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1801271
rs1801271
CSF1R
2 5 150054082 missense variant T/A;C snv 0.700 1.000 1 1990 1990
dbSNP: rs2239704
rs2239704
LTA ; LOC100287329
17 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 0.010 1.000 1 2013 2013
dbSNP: rs2285489
rs2285489
ADAMTS13
2 9 133424254 intron variant T/C snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs387906664
rs387906664
CBL
2 1.000 11 119278220 missense variant T/C;G snv 0.700 1.000 1 2013 2013