Source: BEFREE ×
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: rs1051730
rs1051730
CHRNA3
37 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.800 0.960 19 2008 2018
dbSNP: rs2736100
rs2736100
TERT
73 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.800 1.000 18 2010 2015
dbSNP: rs8034191
rs8034191
HYKK
19 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.800 0.857 16 2008 2017
dbSNP: rs401681
rs401681
CLPTM1L
36 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.800 1.000 15 2008 2018
dbSNP: rs121913530
rs121913530
KRAS
55 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.770 1.000 7 2011 2019
dbSNP: rs3117582
rs3117582
BAG6 ; APOM
8 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.760 1.000 6 2008 2017
dbSNP: rs11571833
rs11571833
BRCA2
31 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.750 0.800 5 2014 2018
dbSNP: rs31489
rs31489
CLPTM1L
8 0.763 0.320 5 1342599 intron variant C/A snv 0.41 0.750 1.000 5 2008 2014
dbSNP: rs4488809
rs4488809
TP63
5 0.827 0.080 3 189638472 intron variant T/C snv 0.45 0.750 1.000 5 2011 2015
dbSNP: rs4324798
rs4324798 		4 0.790 0.240 6 28808340 intergenic variant G/A snv 7.2E-02 0.740 1.000 4 2009 2017
dbSNP: rs578776
rs578776
CHRNA3
11 0.742 0.240 15 78596058 3 prime UTR variant G/A snv 0.39 0.740 1.000 4 2009 2020
dbSNP: rs6495309
rs6495309
CHRNA3 ; CHRNB4
6 0.807 0.080 15 78622903 upstream gene variant C/A;T snv 0.740 1.000 4 2008 2014
dbSNP: rs12914385
rs12914385
CHRNA3
8 0.790 0.160 15 78606381 intron variant C/A;T snv 0.730 1.000 3 2009 2012
dbSNP: rs17879961
rs17879961
CHEK2
45 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.730 1.000 3 2008 2016
dbSNP: rs17728461
rs17728461
HORMAD2 ; LOC105372988
9 0.776 0.120 22 30202563 intron variant C/G snv 0.25 0.720 1.000 2 2011 2015
dbSNP: rs4975616
rs4975616 		9 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 0.720 1.000 2 2009 2010
dbSNP: rs7086803
rs7086803
VTI1A
8 0.763 0.160 10 112738717 intron variant G/A snv 0.20 0.720 1.000 2 2012 2018
dbSNP: rs753955
rs753955
LOC105370113
9 0.776 0.120 13 23719720 regulatory region variant A/G snv 0.50 0.720 1.000 2 2011 2019
dbSNP: rs9295740
rs9295740 		4 0.827 0.120 6 27721723 intergenic variant G/A snv 0.27 0.720 1.000 2 2008 2014
dbSNP: rs1062980
rs1062980
IREB2
3 0.827 0.080 15 78500185 3 prime UTR variant T/C snv 0.39 0.710 1.000 1 2009 2017
dbSNP: rs12910984
rs12910984
CHRNA3
5 0.827 0.080 15 78599285 intron variant G/A;C;T snv 0.710 1.000 1 2009 2012
dbSNP: rs174548
rs174548
FADS1 ; FADS2
3 0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 0.710 1.000 1 2011 2017
dbSNP: rs2036534
rs2036534
HYKK
4 0.827 0.080 15 78534606 3 prime UTR variant T/C snv 0.26 0.710 1.000 1 2008 2012
dbSNP: rs2395185
rs2395185
HLA-DRB9
11 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.710 1.000 1 2012 2019
dbSNP: rs36600
rs36600
MTMR3
4 0.827 0.080 22 29941597 intron variant T/C snv 0.78 0.710 1.000 1 2011 2011