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: rs587781705
rs587781705
CHEK2
5 0.851 0.200 22 28734506 stop gained A/C snv 0.700 0
dbSNP: rs587782401
rs587782401
CHEK2
5 0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05 0.700 0
dbSNP: rs730881701
rs730881701
CHEK2
6 0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs763098116
rs763098116
TP53
3 0.925 0.040 17 7673790 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs863223301
rs863223301
TP53
2 0.925 0.080 17 7675130 frameshift variant -/CCATGGC delins 0.700 0
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 0.833 12 2012 2018
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.100 0.818 11 2012 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.080 0.625 8 2012 2018
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 0.750 4 2007 2019
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.040 0.750 4 2015 2018
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2011 2019
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.030 0.667 3 2017 2018
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.020 1.000 2 2013 2018
dbSNP: rs1057519736
rs1057519736
IDH2
13 0.752 0.160 15 90088605 missense variant C/G snv 0.020 1.000 2 2013 2014
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 2015 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2007 2009
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2009 2011
dbSNP: rs1690916
rs1690916
MDM2
4 0.882 0.040 12 68841626 3 prime UTR variant G/A snv 0.35 0.020 0.500 2 2014 2016
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 1.000 2 2012 2015
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 0.500 2 2015 2017
dbSNP: rs1800541
rs1800541
EDN1
5 0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24 0.020 1.000 2 2013 2014
dbSNP: rs2070699
rs2070699
EDN1
14 0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 0.020 0.500 2 2013 2014
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.020 < 0.001 2 2014 2016
dbSNP: rs2298881
rs2298881
ERCC1
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.020 1.000 2 2015 2015
dbSNP: rs4148416
rs4148416
ABCC3
3 0.882 0.040 17 50676062 synonymous variant C/T snv 8.7E-02 0.10 0.020 1.000 2 2014 2015