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: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.050 1.000 5 2004 2019
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.710 1.000 2 2016 2019
dbSNP: rs17568
rs17568
TNFRSF4
12 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2019 2019
dbSNP: rs229811
rs229811 		1 1.000 0.040 14 83448259 intergenic variant G/C snv 4.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.060 0.833 6 2004 2018
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.040 1.000 4 2006 2018
dbSNP: rs121912656
rs121912656
TP53
28 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.710 1.000 2 2016 2018
dbSNP: rs11016879
rs11016879
MGMT
4 0.882 0.040 10 129691518 intron variant A/C;G snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2018 2018
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs26537
rs26537
AP3S1 ; ATG12
2 0.925 0.080 5 115841317 3 prime UTR variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs4663402
rs4663402
ATG16L1
4 0.851 0.080 2 233285017 intron variant A/T snv 5.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs4759314
rs4759314
HOTAIR
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.010 1.000 1 2018 2018
dbSNP: rs7958904
rs7958904
HOTAIR
15 0.724 0.200 12 53963768 non coding transcript exon variant C/A;G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs874945
rs874945 		14 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 0.010 < 0.001 1 2018 2018
dbSNP: rs9350
rs9350
EXO1
16 0.742 0.240 1 241885372 missense variant C/T snv 0.21 0.19 0.010 1.000 1 2018 2018
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 0.800 5 2010 2017
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 1.000 3 2011 2017
dbSNP: rs1034220998
rs1034220998
ACOT7
1 1.000 0.040 1 6339497 synonymous variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2017 2017
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs1256743514
rs1256743514
EGFR
1 1.000 0.040 7 55191728 missense variant T/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs17084687
rs17084687
KIT
1 1.000 0.040 4 54716231 intron variant C/T snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2017 2017
dbSNP: rs1799801
rs1799801
ERCC4
9 0.807 0.360 16 13948101 synonymous variant T/C snv 0.27 0.25 0.010 1.000 1 2017 2017