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: rs2736100
rs2736100
TERT
73 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.020 1.000 2 2009 2010
dbSNP: rs351855
rs351855
FGFR4
55 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.020 1.000 2 2010 2017
dbSNP: rs7208422
rs7208422
TMC8
6 0.807 0.120 17 78134494 missense variant A/C;T snv 4.0E-06; 0.51 0.020 1.000 2 2008 2015
dbSNP: rs8305
rs8305
POLI
4 0.882 0.120 18 54294435 missense variant G/A snv 0.72 0.78 0.020 1.000 2 2005 2008
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
103 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2014 2019
dbSNP: rs1042602
rs1042602
TYR ; LOC107984363
1 0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24 0.010 1.000 1 2009 2009
dbSNP: rs1047325
rs1047325
S100A2
2 1.000 0.040 1 153561551 missense variant C/T snv 7.1E-02 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1047840
rs1047840
EXO1
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1048638
rs1048638
CA9
10 0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs104886003
rs104886003
PIK3CA
43 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs10491121
rs10491121
CCL4 ; LOC101927369
5 0.882 0.120 17 36102943 upstream gene variant G/A snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs1051730
rs1051730
CHRNA3
37 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1057519824
rs1057519824
MET
9 0.807 0.120 7 116783374 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs1057519911
rs1057519911
MAPK1
8 0.776 0.160 22 21772875 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1057520004
rs1057520004
TP53
1 0.752 0.240 17 7674884 missense variant A/C;T snv 0.010 1.000 1 1993 1993
dbSNP: rs1057520018
rs1057520018
STK11
6 0.807 0.080 19 1223124 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs1057520039
rs1057520039
STK11
2 0.882 0.200 19 1207169 stop gained C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1064793400
rs1064793400
MLH1
1 1.000 0.040 3 37048550 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1064793981
rs1064793981
MSH2
1 1.000 0.040 2 47475030 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs10759637
rs10759637
SLC31A1 ; CDC26
2 1.000 0.040 9 113262744 3 prime UTR variant A/C snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs1078305
rs1078305
GSN
1 1.000 0.040 9 121289122 intron variant A/G snv 0.70 0.010 1.000 1 2016 2016
dbSNP: rs10817938
rs10817938
PTCSC2
5 0.882 0.080 9 97700127 non coding transcript exon variant T/C snv 3.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs10818524
rs10818524
GSN
1 1.000 0.040 9 121267901 intron variant T/C snv 0.37 0.010 1.000 1 2016 2016