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: rs1057519802
rs1057519802
CSF1R
2 5 150061765 missense variant A/C snv 0.700 1.000 1 2009 2009
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: rs121913512
rs121913512
KIT
9 0.851 0.120 4 54728055 missense variant A/C;G snv 0.700 1.000 1 2001 2001
dbSNP: rs8192284
rs8192284
IL6R
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2016 2019
dbSNP: rs121913393
rs121913393
CSF1R
2 5 150054083 missense variant A/G snv 0.700 1.000 1 1990 1990
dbSNP: rs148704956
rs148704956
IL17A
19 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2011 2011
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: rs121913390
rs121913390
CSF1R
2 5 150073481 stop gained A/G;T snv 0.700 1.000 1 1990 1990
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: rs562015640
rs562015640
PTEN
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs909253
rs909253
LTA ; LOC100287329
34 0.641 0.600 6 31572536 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1057520014
rs1057520014
CSF1R
1 5 150073480 missense variant C/A snv 0.700 1.000 1 1990 1990
dbSNP: rs779530981
rs779530981
PTEN
4 1.000 0.160 10 87933035 missense variant C/A snv 0.010 1.000 1 2007 2007
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: 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: rs121434596
rs121434596
NRAS
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 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: rs1114167651
rs1114167651
PTEN
2 1.000 0.160 10 87933107 missense variant C/A;T snv 4.0E-06 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: rs724159945
rs724159945
ETV6
3 1.000 12 11885968 missense variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs757333753
rs757333753
RAF1
6 0.851 0.200 3 12618681 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs3921
rs3921
ART3 ; CXCL10
8 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 0.010 1.000 1 2013 2013