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: 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: 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: 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: 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: rs7267944
rs7267944 		2 0.925 20 39318791 intergenic variant T/C snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs116909374
rs116909374 		11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.020 < 0.001 2 2016 2016
dbSNP: rs944289
rs944289 		16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.040 0.750 4 2014 2018
dbSNP: rs34081947
rs34081947
LINC00609 ; LOC105370451
1 1.000 14 36090325 intron variant C/T snv 0.44 0.700 1.000 1 2017 2017
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: rs6996585
rs6996585
NRG1
2 0.925 0.080 8 32543285 intron variant A/G snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs1302723597
rs1302723597
GGCT
1 1.000 7 30497778 missense variant A/C;G snv 8.1E-06; 8.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 < 0.001 1 2014 2014
dbSNP: rs1220597
rs1220597
SPATA13
2 0.925 13 24243875 intron variant C/T snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs4649295
rs4649295
PCNX2
2 0.925 0.080 1 233280792 intron variant T/C snv 0.60 0.700 1.000 1 2017 2017
dbSNP: rs3731217
rs3731217
CDKN2A
10 0.763 0.320 9 21984662 intron variant A/C;T snv 0.010 1.000 1 2013 2013
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: rs966423
rs966423
DIRC3
11 0.776 0.200 2 217445617 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs12990503
rs12990503
DIRC3
2 0.925 0.080 2 217429494 intron variant C/G snv 0.64 0.700 1.000 1 2017 2017
dbSNP: rs17739370
rs17739370 		2 0.925 4 177374275 intergenic variant C/T snv 0.38 0.010 1.000 1 2016 2016
dbSNP: rs7689099
rs7689099
NEIL3
2 0.925 4 177335759 missense variant C/A;G;T snv 4.2E-06; 0.11; 1.7E-05 0.010 1.000 1 2016 2016
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: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2014 2014
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: rs3828599
rs3828599
GPX3 ; LOC105378228
5 0.882 0.040 5 151022235 intron variant A/G snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs3805435
rs3805435
GPX3 ; LOC105378228
3 0.882 0.120 5 151021735 non coding transcript exon variant T/C snv 8.4E-02 0.010 1.000 1 2009 2009