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: 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: 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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 0.571 7 2008 2018
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 0.571 7 2008 2018
dbSNP: rs11979158
rs11979158
EGFR
5 0.882 0.040 7 55091656 intron variant A/G;T snv 0.20 0.850 1.000 6 2011 2018
dbSNP: rs2252586
rs2252586 		5 0.882 0.040 7 54911231 intergenic variant C/T snv 0.27 0.860 0.833 6 2011 2017
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.840 1.000 6 2009 2017
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: 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: rs2297440
rs2297440
RTEL1 ; RTEL1-TNFRSF6B
10 0.763 0.080 20 63680946 intron variant T/C snv 0.81 0.820 1.000 5 2009 2018
dbSNP: rs1412829
rs1412829
CDKN2B-AS1
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.810 1.000 4 2009 2016
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: rs730437
rs730437
EGFR
2 0.925 0.120 7 55147325 intron variant A/C snv 0.51 0.040 0.750 4 2012 2017
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.720 1.000 4 2012 2018
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 3 2015 2018
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.710 1.000 3 2009 2018
dbSNP: rs12803321
rs12803321
PHLDB1
2 1.000 0.040 11 118609400 intron variant G/C;T snv 0.700 1.000 3 2015 2018
dbSNP: rs1346786
rs1346786
EFEMP1
1 1.000 0.040 2 55881198 intron variant C/T snv 0.36 0.030 1.000 3 2015 2017
dbSNP: rs1346787
rs1346787
EFEMP1 ; LOC112268416
3 0.882 0.040 2 55865477 downstream gene variant C/A;G;T snv 0.030 1.000 3 2015 2017
dbSNP: rs1468727
rs1468727
EGFR
2 0.925 0.120 7 55162412 intron variant C/T snv 0.21 0.030 1.000 3 2012 2015