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 1.000 2 2014 2016
dbSNP: rs1060500091
rs1060500091
GATA2
4 0.882 0.120 3 128481887 missense variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs4795519
rs4795519 		1 1.000 0.080 17 27214252 intergenic variant A/C snv 0.43 0.800 1.000 1 2011 2011
dbSNP: rs61764370
rs61764370
KRAS
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs628031
rs628031
SLC22A1
8 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 0.010 1.000 1 2018 2018
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs3822214
rs3822214
KIT
13 0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.040 0.750 4 2014 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.917 12 2003 2019
dbSNP: rs121913456
rs121913456
ABL1
1 1.000 0.080 9 130862943 missense variant A/G snv 0.710 1.000 10 2002 2014
dbSNP: rs121913450
rs121913450
ABL1
1 1.000 0.080 9 130873016 missense variant A/G snv 0.700 1.000 8 2002 2014
dbSNP: rs121913454
rs121913454
ABL1
2 0.925 0.080 9 130874969 missense variant A/G snv 0.710 1.000 8 2002 2016
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2010 2016
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 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: rs1239681664
rs1239681664
ABCA1
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1414109649
rs1414109649
PRKAA1
1 1.000 0.080 5 40765164 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs34549764
rs34549764
ABL1
1 1.000 0.080 9 130862953 missense variant A/G snv 2.6E-03 2.5E-03 0.010 < 0.001 1 2005 2005
dbSNP: rs568887534
rs568887534
DCTN6
9 0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs762613037
rs762613037
SLC19A1 ; COL18A1
7 0.790 0.160 21 45512196 missense variant A/G snv 2.1E-05 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs768288452
rs768288452
BCR ; RSPH14
1 1.000 0.080 22 23181822 missense variant A/G snv 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.080 0.875 8 2011 2017
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: rs121913449
rs121913449
ABL1
1 1.000 0.080 9 130862977 missense variant A/T snv 0.700 1.000 10 2001 2014
dbSNP: rs121913460
rs121913460
ABL1
2 0.925 0.080 9 130862971 missense variant A/T snv 0.720 1.000 6 2002 2014