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: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.070 0.857 7 2003 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.070 0.857 7 2004 2017
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.070 0.857 7 2004 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.070 0.714 7 2009 2019
dbSNP: rs1859962
rs1859962
CASC17
3 0.882 0.160 17 71112612 intron variant G/T snv 0.56 0.770 0.900 7 2008 2016
dbSNP: rs1902023
rs1902023
UGT2B15
4 0.882 0.080 4 68670366 missense variant A/C snv 0.51 0.53 0.070 0.857 7 2000 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.060 0.667 6 2007 2016
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.060 0.833 6 2007 2017
dbSNP: rs339331
rs339331
RFX6
4 0.882 0.080 6 116888889 intron variant T/C snv 0.28 0.760 0.857 6 2010 2016
dbSNP: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.060 1.000 6 2011 2019
dbSNP: rs41341748
rs41341748
MSR1
5 0.827 0.120 8 16155085 stop gained G/A;C snv 8.3E-03; 2.8E-05 0.060 1.000 6 2004 2006
dbSNP: rs10486567
rs10486567
JAZF1
8 0.851 0.120 7 27936944 intron variant G/A snv 0.28 0.050 0.800 5 2010 2014
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.050 1.000 5 2005 2019
dbSNP: rs10941112
rs10941112
AMACR ; C1QTNF3-AMACR
4 0.882 0.120 5 34004602 missense variant C/T snv 0.42 0.38 0.050 0.800 5 2002 2015
dbSNP: rs17632542
rs17632542
KLK3
4 0.925 0.080 19 50858501 missense variant T/C snv 5.5E-02 4.9E-02 0.750 0.667 5 2011 2015
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.050 1.000 5 2010 2018
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.050 0.800 5 2007 2019
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.050 0.800 5 2012 2017
dbSNP: rs266882
rs266882
KLK3
4 0.925 0.080 19 50854757 upstream gene variant G/A snv 0.49 0.050 0.800 5 2006 2018
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 0.600 5 2010 2018
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.050 0.800 5 2010 2019
dbSNP: rs743572
rs743572
CYP17A1
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.050 0.800 5 2007 2015
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.050 0.800 5 2012 2017
dbSNP: rs1034866440
rs1034866440
AR
4 0.851 0.160 X 67643401 missense variant G/A snv 5.7E-06 0.040 0.750 4 2002 2011
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.040 1.000 4 2007 2014