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: rs351855
rs351855
FGFR4
55 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.100 0.917 12 2005 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.909 11 2005 2013
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.100 0.909 11 2002 2015
dbSNP: rs1695
rs1695
GSTP1
187 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.100 0.818 11 2007 2019
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 0.909 11 2002 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
230 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 1.000 11 2003 2016
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.100 1.000 11 2010 2019
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.100 0.545 11 2011 2019
dbSNP: rs401681
rs401681
CLPTM1L
36 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.100 1.000 11 2009 2017
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.100 0.909 11 2013 2020
dbSNP: rs121913529
rs121913529
KRAS
135 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.100 1.000 10 2009 2019
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.100 0.800 10 2004 2019
dbSNP: rs2736098
rs2736098
TERT
46 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.100 0.900 10 2010 2018
dbSNP: rs121913279
rs121913279
PIK3CA
62 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.090 1.000 9 2012 2018
dbSNP: rs1258159645
rs1258159645
NQO1
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.090 1.000 9 2010 2019
dbSNP: rs17879961
rs17879961
CHEK2
45 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.090 1.000 9 2006 2013
dbSNP: rs2279744
rs2279744
MDM2
47 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.090 1.000 9 2011 2019
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.090 1.000 9 2011 2019
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.080 0.625 8 2009 2019
dbSNP: rs4759314
rs4759314
HOTAIR
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.080 0.500 8 2016 2019
dbSNP: rs9904341
rs9904341
BIRC5
20 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 0.080 1.000 8 2012 2020
dbSNP: rs1042028
rs1042028
SULT1A1
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.070 1.000 7 2004 2016
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.070 1.000 7 2005 2018
dbSNP: rs1801282
rs1801282
PPARG
127 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.070 1.000 7 2001 2014
dbSNP: rs1801516
rs1801516
ATM
37 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.070 0.714 7 2005 2018