Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2747648
rs2747648
ESR1
0.925 0.080 6 152101200 3 prime UTR variant C/T snv 0.98
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2012 2012
dbSNP: rs828200
rs828200 		0.925 0.080 13 90718206 regulatory region variant C/T snv 0.96
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014
dbSNP: rs2206593
rs2206593
PTGS2
0.925 0.080 1 186673297 3 prime UTR variant A/G snv 0.95
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2015 2015
dbSNP: rs4896011
rs4896011
TCF21
0.925 0.080 6 133893615 3 prime UTR variant A/T snv 0.94
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2016 2016
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2017 2018
dbSNP: rs11085735
rs11085735
KEAP1
0.925 0.080 19 10491504 intron variant A/C snv 0.92
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2015 2015
dbSNP: rs1801726
rs1801726
CASR
0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs2665390
rs2665390
TIPARP ; LOC107986148
0.776 0.160 3 156679960 intron variant C/T snv 0.92
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
NPAS2
0.708 0.320 2 100964784 intron variant C/T snv 0.92
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs861529
rs861529
KLC1 ; XRCC3
0.925 0.080 14 103712977 3 prime UTR variant T/C snv 0.91
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2007 2007
dbSNP: rs7558475
rs7558475
CFLAR
0.925 0.080 2 201171755 3 prime UTR variant G/A snv 0.90
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs7766238
rs7766238
TCF21
0.925 0.080 6 133893438 3 prime UTR variant A/G snv 0.90
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2016 2016
dbSNP: rs6721961
rs6721961
NFE2L2
0.672 0.520 2 177265309 intron variant T/C;G snv 0.89
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2012 2012
dbSNP: rs1802904
rs1802904
ATR ; XRN1
0.925 0.080 3 142449489 synonymous variant C/T snv 0.86 0.89
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2013 2013
dbSNP: rs198580
rs198580
RB1
0.925 0.080 13 48459611 intron variant G/A snv 0.89
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2006 2006
dbSNP: rs1675126
rs1675126
INCENP
0.925 0.080 11 62138902 synonymous variant T/C snv 0.84 0.88
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2015 2015
dbSNP: rs833052
rs833052 		0.827 0.160 6 43755598 intergenic variant A/C snv 0.88
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2012 2012
dbSNP: rs623590
rs623590
HRH4
0.925 0.080 18 24463389 intron variant T/A;C snv 0.88
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2013 2013
dbSNP: rs2241745
rs2241745
IRS2
0.882 0.120 13 109770184 intron variant C/T snv 0.88
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2019 2019
dbSNP: rs9325782
rs9325782 		0.851 0.120 8 16232964 intron variant C/T snv 0.87
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2007 2007
dbSNP: rs2745559
rs2745559 		0.925 0.080 1 186682870 upstream gene variant A/C;T snv 0.87
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2011 2011
dbSNP: rs518162
rs518162
PGR ; PGR-AS1
0.925 0.080 11 101129770 5 prime UTR variant A/G snv 0.86
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs2494752
rs2494752
AKT1
0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 0.833 6 2004 2017
dbSNP: rs7558615
rs7558615
ERBB4
0.925 0.080 2 212081424 intron variant T/C snv 0.84
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2007 2007