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: rs2297440
rs2297440
RTEL1 ; RTEL1-TNFRSF6B
10 0.763 0.080 20 63680946 intron variant T/C snv 0.81 0.730 1.000 5 2010 2018
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.710 1.000 3 2015 2018
dbSNP: rs55705857
rs55705857
CCDC26
16 0.732 0.080 8 129633446 intron variant A/G snv 3.9E-02 0.710 1.000 3 2013 2018
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.710 1.000 3 2013 2018
dbSNP: rs3851634
rs3851634
POLR3B
4 0.882 0.040 12 106419124 intron variant T/C snv 0.22 0.710 1.000 1 2015 2015
dbSNP: rs75061358
rs75061358 		4 0.882 0.040 7 54848587 intergenic variant T/C;G snv 0.700 1.000 3 2015 2018
dbSNP: rs634537
rs634537
CDKN2B-AS1
6 0.851 0.080 9 22032153 intron variant T/G snv 0.28 0.700 1.000 2 2017 2018
dbSNP: rs723527
rs723527
EGFR
4 0.882 0.040 7 55067179 intron variant A/G snv 0.53 0.700 1.000 2 2017 2018
dbSNP: rs10852606
rs10852606
HEATR3
4 0.882 0.040 16 50094961 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11233250
rs11233250
MIR4300HG
4 0.882 0.040 11 82685972 intron variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs11979158
rs11979158
EGFR
5 0.882 0.040 7 55091656 intron variant A/G;T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs12752552
rs12752552
RAVER2
4 0.882 0.040 1 64763616 intron variant T/C snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs145929329
rs145929329
CDKN2B-AS1
3 0.882 0.040 9 22066213 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTT delins 0.58 0.700 1.000 1 2015 2015
dbSNP: rs2235573
rs2235573
SLC16A8
4 0.882 0.040 22 38081923 synonymous variant G/A snv 0.47 0.46 0.700 1.000 1 2017 2017
dbSNP: rs2562152
rs2562152
RHBDF1
4 0.882 0.040 16 73898 intron variant A/T snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs35850753
rs35850753
TP53
8 0.807 0.080 17 7675353 5 prime UTR variant C/T snv 1.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs59060240
rs59060240
EGFR
4 0.882 0.040 7 55080369 intron variant AA/-;A;AAA;AAAA;AAAAAAAAAAA delins 0.700 1.000 1 2015 2015
dbSNP: rs6062302
rs6062302
RTEL1 ; RTEL1-TNFRSF6B
4 0.882 0.040 20 63689615 synonymous variant T/C snv 0.74 0.81 0.700 1.000 1 2015 2015
dbSNP: rs72709458
rs72709458
TERT
5 0.882 0.040 5 1283640 intron variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs7732320
rs7732320
SSBP2
2 0.925 0.040 5 81423306 intron variant C/T snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs1384093596
rs1384093596
DYRK2
1 1.000 0.040 12 67657500 missense variant C/T snv 0.700 0
dbSNP: rs1402272180
rs1402272180
AKT3
1 1.000 0.040 1 243637661 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1466858740
rs1466858740
PRKCB
1 1.000 0.040 16 24180881 missense variant G/A snv 0.700 0
dbSNP: rs1558650888
rs1558650888
DNMT3A
2 0.925 0.040 2 25234308 missense variant G/A snv 0.700 0
dbSNP: rs1567176006
rs1567176006
SLX4
1 1.000 0.040 16 3602208 frameshift variant CT/- del 0.700 0