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: rs11599672
rs11599672
PLCE1 ; LOC105378438
3 0.925 0.080 10 93993019 regulatory region variant T/G snv 0.21 0.010 1.000 1 2011 2011
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: rs11801299
rs11801299
LOC105371692
9 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs1211098985
rs1211098985
MTRR
3 1.000 0.040 5 7878128 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2012 2012
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: rs12452890
rs12452890
TMC8
1 1.000 0.040 17 78134989 synonymous variant G/A snv 0.54 0.58 0.010 1.000 1 2016 2016
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: rs1257821596
rs1257821596
AVP
1 1.000 0.040 20 3083027 frameshift variant -/C delins 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1276184054
rs1276184054
EGFR
4 0.851 0.080 7 55201305 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
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: rs1308193541
rs1308193541
CBS
1 1.000 0.040 21 43066312 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1360602468
rs1360602468
KLC1 ; XRCC3
2 0.925 0.080 14 103698904 missense variant G/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1380228918
rs1380228918
ERCC2
3 1.000 0.040 19 45364065 synonymous variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1380576
rs1380576
MDM4
10 0.763 0.240 1 204519150 intron variant G/C snv 0.57 0.010 1.000 1 2011 2011
dbSNP: rs1389500636
rs1389500636
EGFR
6 0.827 0.080 7 55156796 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs139994842
rs139994842
NOTCH1
3 0.925 0.040 9 136508308 missense variant G/A;C snv 1.5E-03 0.010 1.000 1 2016 2016
dbSNP: rs142648132
rs142648132
MTR
5 0.827 0.160 1 236816521 missense variant G/A;C;T snv 8.4E-04; 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs148573932
rs148573932
SHMT2
1 1.000 0.040 12 57232791 missense variant A/G snv 2.8E-05 7.0E-05 0.010 1.000 1 2012 2012
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1573496
rs1573496
ADH7
7 0.827 0.160 4 99428512 missense variant C/G snv 8.5E-02; 4.9E-04 7.8E-02 0.010 1.000 1 2010 2010
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: 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: 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