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: rs2555639
rs2555639 		7 0.851 0.080 4 174540379 non coding transcript exon variant T/C snv 0.38 0.020 1.000 2 2013 2020
dbSNP: rs16906252
rs16906252
MGMT
19 0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02 0.010 1.000 1 2020 2020
dbSNP: rs2189517
rs2189517
RAD51B
3 0.882 0.080 14 68536271 intron variant A/G snv 0.49 0.010 1.000 1 2020 2020
dbSNP: rs2585428
rs2585428
CYP24A1
11 0.763 0.200 20 54170358 intron variant C/T snv 0.46 0.010 1.000 1 2020 2020
dbSNP: rs4809960
rs4809960
CYP24A1
8 0.807 0.240 20 54169534 intron variant T/C snv 0.20 0.010 1.000 1 2020 2020
dbSNP: rs6022999
rs6022999
CYP24A1
9 0.790 0.160 20 54171474 intron variant A/G snv 0.36 0.010 1.000 1 2020 2020
dbSNP: rs6068816
rs6068816
CYP24A1
12 0.752 0.200 20 54164552 synonymous variant C/T snv 0.12 8.9E-02 0.010 1.000 1 2020 2020
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.938 32 2004 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.938 32 2004 2019
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.040 1.000 4 2015 2019
dbSNP: rs1057519725
rs1057519725
KRAS
6 0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1057519822
rs1057519822
MAP2K1
3 0.925 0.080 15 66481818 missense variant T/A snv 0.010 1.000 1 2019 2019
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 2019 2019
dbSNP: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2019 2019
dbSNP: rs13281615
rs13281615
POU5F1B ; CASC8 ; PCAT1 ; CASC21
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs187960998
rs187960998
TRPM1 ; MIR211
3 0.925 0.080 15 31065098 mature miRNA variant C/T snv 1.2E-05 6.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs1902432
rs1902432
PCAT1 ; LOC105375751
4 0.851 0.120 8 127012566 intron variant A/G snv 0.25 0.010 1.000 1 2019 2019
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 1.000 1 2019 2019
dbSNP: rs3748067
rs3748067
IL17A
21 0.672 0.320 6 52190541 3 prime UTR variant C/T snv 6.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs3804513
rs3804513
IL17A
4 0.851 0.080 6 52188399 intron variant A/T snv 2.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs4135113
rs4135113
TDG
5 0.925 0.080 12 103982915 missense variant G/A;C;T snv 4.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs41395947
rs41395947
ABCC1
2 0.925 0.080 16 16007895 missense variant G/C snv 2.0E-05 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs41494447
rs41494447
ABCC1
2 0.925 0.080 16 16007985 missense variant C/T snv 4.4E-04 2.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs6854845
rs6854845 		6 0.827 0.080 4 74821455 intergenic variant G/T snv 0.13 0.010 1.000 1 2019 2019