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: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.900 0.952 21 2009 2020
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 19 2011 2020
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 18 2011 2020
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.900 0.889 18 2009 2020
dbSNP: rs498872
rs498872
PHLDB1
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.900 0.941 17 2009 2020
dbSNP: rs4977756
rs4977756
CDKN2B-AS1
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.900 0.875 16 2009 2020
dbSNP: rs4295627
rs4295627
CCDC26
11 0.763 0.200 8 129673211 intron variant T/G snv 0.17 0.900 1.000 12 2009 2020
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.050 0.800 5 2016 2020
dbSNP: rs1582417
rs1582417
MIR3142HG
2 0.925 0.040 5 160470494 intron variant A/G snv 0.80 0.010 1.000 1 2020 2020
dbSNP: rs17057846
rs17057846
MIR3142HG
2 0.925 0.040 5 160475306 intron variant G/A snv 0.13 0.010 1.000 1 2020 2020
dbSNP: rs2961920
rs2961920
MIR146A ; MIR3142HG
1 1.000 0.040 5 160484499 intron variant C/A snv 0.70 0.010 1.000 1 2020 2020
dbSNP: rs58747524
rs58747524
MIR146A ; MIR3142HG
2 0.925 0.040 5 160484577 intron variant T/C snv 0.14 0.010 1.000 1 2020 2020
dbSNP: rs7727115
rs7727115
MIR3142 ; MIR3142HG
1 1.000 0.040 5 160474732 intron variant G/T snv 0.17 0.010 1.000 1 2020 2020
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 49 2009 2019
dbSNP: rs55705857
rs55705857
CCDC26
16 0.732 0.080 8 129633446 intron variant A/G snv 3.9E-02 0.760 1.000 9 2013 2019
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.080 1.000 8 2009 2019
dbSNP: rs55819519
rs55819519
TP53
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.070 1.000 7 2010 2019
dbSNP: rs118101777
rs118101777
IDH2
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.050 1.000 5 2014 2019
dbSNP: rs2157719
rs2157719
CDKN2B-AS1
17 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 0.820 1.000 5 2009 2019
dbSNP: rs6470745
rs6470745
CCDC26
3 0.882 0.040 8 129629675 intron variant A/G snv 0.18 0.720 1.000 4 2009 2019
dbSNP: rs634537
rs634537
CDKN2B-AS1
6 0.851 0.080 9 22032153 intron variant T/G snv 0.28 0.710 1.000 3 2017 2019
dbSNP: rs891835
rs891835
CCDC26
5 0.851 0.120 8 129479506 intron variant T/G snv 0.17 0.810 1.000 3 2009 2019
dbSNP: rs1059394
rs1059394
TYMS ; ENOSF1
2 0.925 0.080 18 672792 3 prime UTR variant C/T snv 0.40 0.020 1.000 2 2019 2019
dbSNP: rs2151280
rs2151280
CDKN2B-AS1
16 0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 0.710 1.000 2 2011 2019
dbSNP: rs2847153
rs2847153
TYMS
3 0.925 0.080 18 661647 intron variant G/A snv 0.22 0.020 1.000 2 2019 2019