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: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.020 1.000 2 2008 2016
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 < 0.001 1 2008 2008
dbSNP: rs1800371
rs1800371
TP53
15 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 0.010 < 0.001 1 2008 2008
dbSNP: rs3093739
rs3093739
LIG4
1 1.000 0.040 13 108215053 intron variant A/G snv 8.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs699473
rs699473
SOD3
5 0.827 0.160 4 24795181 intron variant C/T snv 0.54 0.010 1.000 1 2008 2008
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: 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: 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: 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: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.840 1.000 6 2009 2017
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: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.040 1.000 4 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: 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: rs17748
rs17748
TREH ; PHLDB1
5 0.827 0.080 11 118657714 3 prime UTR variant C/T snv 0.18 0.710 1.000 3 2009 2012
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: rs10464870
rs10464870
CCDC26
3 0.882 0.040 8 129465577 intron variant C/T snv 0.80 0.700 1.000 2 2009 2011
dbSNP: rs16904140
rs16904140
CCDC26
1 1.000 0.040 8 129653397 intron variant G/A snv 0.19 0.700 1.000 2 2009 2011
dbSNP: rs10494090
rs10494090
SLC25A24
2 1.000 0.040 1 108150714 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs10924303
rs10924303
KIF26B ; LOC105373265
2 1.000 0.040 1 245683732 intron variant C/T snv 0.15 0.700 1.000 1 2009 2009