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: rs1057520004
rs1057520004
TP53
1 0.752 0.240 17 7674884 missense variant A/C;T snv 0.010 1.000 1 1993 1993
dbSNP: rs885479
rs885479
MC1R
15 0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 0.010 1.000 1 2001 2001
dbSNP: rs1057519824
rs1057519824
MET
9 0.807 0.120 7 116783374 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs1801166
rs1801166
APC
16 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.010 1.000 1 2004 2004
dbSNP: rs587782289
rs587782289
TP53
3 0.752 0.240 17 7674257 missense variant A/C;G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs1258159645
rs1258159645
NQO1
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2006 2006
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.010 < 0.001 1 2006 2006
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2006 2006
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: rs1801270
rs1801270
CDKN1A
22 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs749140677
rs749140677
VDR
13 0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs886039484
rs886039484
TP53
23 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2007 2007
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: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs11549467
rs11549467
HIF1A ; HIF1A-AS3
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.010 1.000 1 2008 2008
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
30 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 1.000 1 2008 2008
dbSNP: rs3087386
rs3087386
REV1
8 0.790 0.160 2 99439044 missense variant A/G snv 0.58 0.61 0.010 1.000 1 2008 2008
dbSNP: rs3087399
rs3087399
REV1
4 0.882 0.120 2 99438696 missense variant T/C snv 0.13 0.17 0.010 1.000 1 2008 2008
dbSNP: rs4462560
rs4462560
MAN2C1 ; NEIL1 ; MIR631
5 0.851 0.080 15 75355623 3 prime UTR variant G/C snv 0.64 0.010 1.000 1 2008 2008
dbSNP: rs7182283
rs7182283
NEIL1
2 0.925 0.120 15 75351418 intron variant G/T snv 0.43 0.010 1.000 1 2008 2008
dbSNP: rs7297245
rs7297245
HAL
4 0.882 0.040 12 95980836 missense variant C/T snv 0.85 0.86 0.010 < 0.001 1 2008 2008
dbSNP: rs804270
rs804270
NEIL2
3 0.882 0.080 8 11770112 5 prime UTR variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 1.000 2 2005 2009