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 0.010 1.000 1 2006 2006
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs9266150
rs9266150
HLA-B ; MIR6891
3 0.925 0.040 6 31356368 missense variant A/C;G;T snv 0.12; 7.9E-05; 3.8E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs1133400
rs1133400
INPP5A
4 1.000 0.080 10 132645884 missense variant A/G snv 0.22 0.18 0.010 1.000 1 2015 2015
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2006 2006
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2018 2018
dbSNP: rs2297235
rs2297235
GSTO2
11 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs3024496
rs3024496
IL10
6 0.827 0.200 1 206768519 3 prime UTR variant A/G snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2010 2010
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2015 2018
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2014 2014
dbSNP: rs156697
rs156697
GSTO2
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs1650697
rs1650697
DHFR ; MSH3
3 0.925 0.120 5 80654962 missense variant A/G;T snv 0.86 0.010 1.000 1 2015 2015
dbSNP: rs3790064
rs3790064
PNP
1 14 20472910 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.020 1.000 2 2015 2018
dbSNP: rs1043673
rs1043673
NLRP2
2 19 55000864 missense variant C/A snv 0.37 0.39 0.010 1.000 1 2013 2013
dbSNP: rs4925
rs4925
GSTO1
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 1.000 1 2018 2018
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs769255883
rs769255883
XPA
2 1.000 0.160 9 97689592 stop gained C/A;G;T snv 1.2E-05; 5.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs897453
rs897453
PEMT
2 1.000 0.080 17 17522317 missense variant C/A;G;T snv 8.0E-06; 0.34 0.010 1.000 1 2015 2015
dbSNP: rs9989407
rs9989407 		1 16 68730609 intergenic variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2007 2007
dbSNP: rs12919719
rs12919719
CDH1
1 16 68788438 intron variant C/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs6504649
rs6504649
XYLT2
4 0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs7196495
rs7196495
CDH1
1 16 68739957 intron variant C/G;T snv 0.010 1.000 1 2012 2012