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 0.700 1.000 1 2017 2017
dbSNP: rs1673041
rs1673041
POLD1
1 19 50406132 intron variant T/A;G snv 0.73 0.79 0.010 1.000 1 2017 2017
dbSNP: rs2157719
rs2157719
CDKN2B-AS1
17 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 0.700 1.000 2 2011 2015
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: rs1409785
rs1409785 		2 1.000 0.040 1 74782438 intergenic variant G/A snv 0.65 0.700 1.000 1 2009 2009
dbSNP: rs4977756
rs4977756
CDKN2B-AS1
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.700 1.000 2 2009 2012
dbSNP: rs7107785
rs7107785
MAML2
2 1.000 0.040 11 96014174 intron variant T/C snv 0.57 0.700 1.000 1 2017 2017
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 2017 2017
dbSNP: rs723527
rs723527
EGFR
4 0.882 0.040 7 55067179 intron variant A/G snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.800 1.000 5 2009 2014
dbSNP: rs12230172
rs12230172
LOC105369844
4 0.882 0.040 12 75848895 intron variant A/G snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs1275600
rs1275600
LOC105369844
2 1.000 0.040 12 75869771 intron variant T/A snv 0.47 0.700 1.000 1 2017 2017
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: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 2 2015 2017
dbSNP: rs3751667
rs3751667
LMF1
4 1.000 0.040 16 954554 synonymous variant C/T snv 0.28 0.29 0.700 1.000 1 2017 2017
dbSNP: rs1412829
rs1412829
CDKN2B-AS1
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.800 1.000 1 2009 2009
dbSNP: rs634537
rs634537
CDKN2B-AS1
6 0.851 0.080 9 22032153 intron variant T/G snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs2252586
rs2252586 		5 0.882 0.040 7 54911231 intergenic variant C/T snv 0.27 0.700 1.000 1 2011 2011
dbSNP: rs11599775
rs11599775
VTI1A
2 1.000 0.040 10 112699938 intron variant G/A snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs7572263
rs7572263
C2orf80
2 1.000 0.040 2 208186862 intron variant A/G snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs1920116
rs1920116
LRRC31
5 0.882 0.040 3 169862183 intron variant G/A snv 0.25 0.800 1.000 1 2014 2014
dbSNP: rs3851634
rs3851634
POLR3B
4 0.882 0.040 12 106419124 intron variant T/C snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs12076373
rs12076373
AKT3
2 1.000 0.040 1 243688645 intron variant G/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs10924690
rs10924690
SMYD3
2 1.000 0.040 1 246320481 intron variant G/A snv 0.20 0.700 1.000 1 2009 2009
dbSNP: rs12088062
rs12088062 		2 1.000 0.040 1 244811284 intergenic variant C/T snv 0.20 0.700 1.000 1 2009 2009