Source: CURATED ×
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: rs2736100
rs2736100
TERT
16 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.880 1.000 5 2009 2016
dbSNP: rs10937405
rs10937405
TP63
1 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.840 1.000 2 2010 2014
dbSNP: rs7216064
rs7216064
BPTF
1 1.000 0.040 17 67902693 intron variant G/A snv 0.22 0.810 1.000 3 2012 2019
dbSNP: rs2495239
rs2495239
FOXP4-AS1
1 1.000 0.040 6 41522750 intron variant A/G snv 0.84 0.810 1.000 2 2012 2016
dbSNP: rs2853677
rs2853677
TERT
6 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.810 1.000 2 2012 2016
dbSNP: rs3817963
rs3817963
BTNL2 ; TSBP1-AS1
5 0.776 0.360 6 32400310 intron variant T/C snv 0.25 0.810 1.000 2 2012 2017
dbSNP: rs401681
rs401681
CLPTM1L
17 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.810 1.000 2 2009 2019
dbSNP: rs1051730
rs1051730
CHRNA3
11 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.810 1.000 1 2009 2014
dbSNP: rs31489
rs31489
CLPTM1L
5 0.763 0.320 5 1342599 intron variant C/A snv 0.41 0.810 1.000 1 2009 2014
dbSNP: rs17391694
rs17391694 		6 0.882 0.120 1 78157942 regulatory region variant C/T snv 7.8E-02 0.800 1.000 2 2009 2017
dbSNP: rs1057520012
rs1057520012
EPHA5
1 1.000 0.040 4 65404419 missense variant C/T snv 0.800 1.000 1 2005 2005
dbSNP: rs113488022
rs113488022
BRAF
22 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 1 2008 2019
dbSNP: rs3117582
rs3117582
BAG6 ; APOM
8 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.800 1.000 1 2009 2009
dbSNP: rs4324798
rs4324798 		5 0.790 0.240 6 28808340 intergenic variant G/A snv 7.2E-02 0.800 1.000 1 2009 2009
dbSNP: rs121913530
rs121913530
KRAS
13 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.730 1.000 2 2014 2019
dbSNP: rs371769427
rs371769427
U2AF1
9 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.730 0.750 1 2016 2019
dbSNP: rs121913338
rs121913338
BRAF
12 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.720 1.000 1 2016 2018
dbSNP: rs28929495
rs28929495
EGFR
3 0.807 0.120 7 55174014 missense variant G/A;C;T snv 0.720 1.000 1 2016 2018
dbSNP: rs1057519816
rs1057519816
ERBB2
10 0.763 0.200 17 39711955 missense variant C/A;T snv 0.710 1.000 1 2016 2018
dbSNP: rs1057520005
rs1057520005
TP53
11 0.742 0.360 17 7673800 missense variant C/A;G snv 0.710 1.000 1 2015 2016
dbSNP: rs121912651
rs121912651
TP53
37 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.710 1.000 1 2016 2017
dbSNP: rs121913279
rs121913279
PIK3CA
48 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.710 1.000 1 2016 2017
dbSNP: rs121913444
rs121913444
EGFR
3 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.710 1.000 1 2016 2020
dbSNP: rs12914385
rs12914385
CHRNA3
13 0.790 0.160 15 78606381 intron variant C/A;T snv 0.710 1.000 1 2009 2014
dbSNP: rs13314271
rs13314271
TP63
2 0.925 0.080 3 189639813 intron variant T/C snv 0.45 0.710 1.000 1 2014 2014