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: 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 2009 2016
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1800057
rs1800057
ATM
11 0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs1800860
rs1800860
RET
3 0.882 0.080 10 43111239 missense variant A/G snv 0.70 0.74 0.010 1.000 1 2017 2017
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 < 0.001 1 2015 2015
dbSNP: rs1867277
rs1867277
FOXE1 ; PTCSC2
10 0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63 0.020 1.000 2 2015 2018
dbSNP: rs1874564
rs1874564
LOC105377294 ; LOC107986291
2 0.925 0.080 4 76936952 intergenic variant G/A snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
13 0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 0.010 1.000 1 2012 2012
dbSNP: rs2048722
rs2048722
TPO
2 0.925 2 1492028 intron variant A/G snv 0.51 0.010 1.000 1 2013 2013
dbSNP: rs2070593
rs2070593
GPX3
6 0.827 0.120 5 151028379 3 prime UTR variant G/A;T snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs2132572
rs2132572
IGFBP3
3 1.000 7 45921946 upstream gene variant T/C snv 0.79 0.010 1.000 1 2012 2012
dbSNP: rs2227869
rs2227869
ERCC5 ; BIVM-ERCC5
9 0.790 0.240 13 102862735 missense variant G/A;C snv 4.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2013 2013
dbSNP: rs2230641
rs2230641
CCNH
8 0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17 0.010 1.000 1 2013 2013
dbSNP: rs2248137
rs2248137
CYP24A1
5 0.827 0.160 20 54173204 intron variant C/G snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs2296241
rs2296241
CYP24A1
12 0.763 0.200 20 54169680 synonymous variant G/A snv 0.49 0.51 0.010 1.000 1 2012 2012
dbSNP: rs2439302
rs2439302
NRG1
9 0.776 0.200 8 32574851 intron variant G/C snv 0.54 0.010 < 0.001 1 2016 2016
dbSNP: rs2480258
rs2480258
CYP2E1
1 1.000 10 133538596 intron variant T/C snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.060 0.667 6 2009 2016
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.030 1.000 3 2013 2014
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 0.010 < 0.001 1 2017 2017
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
12 0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs3136166
rs3136166
ERCC4
2 0.925 16 13938236 intron variant T/G snv 0.44 0.010 1.000 1 2016 2016