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: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.770 1.000 7 2008 2019
dbSNP: rs1302103336
rs1302103336
CHEK1
0.776 0.120 11 125637491 missense variant T/C snv 8.1E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 1.000 7 2003 2016
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 0.714 7 2009 2019
dbSNP: rs25489
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 0.714 7 2003 2016
dbSNP: rs28897672
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.870 1.000 7 2004 2019
dbSNP: rs854560
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 1.000 7 2006 2019
dbSNP: rs1042838
rs1042838
PGR
0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 0.667 6 2002 2020
dbSNP: rs104886003
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.760 1.000 6 2006 2019
dbSNP: rs61754966
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 0.833 6 2008 2015
dbSNP: rs6505162
rs6505162
NSRP1 ; MIR423 ; MIR3184
0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 0.833 6 2012 2018
dbSNP: rs759412116
rs759412116
ERCC2
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 0.833 6 2005 2019
dbSNP: rs7903146
rs7903146
TCF7L2
0.554 0.680 10 112998590 intron variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 1.000 6 2012 2018
dbSNP: rs796065354
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.760 1.000 6 2000 2013
dbSNP: rs799917
rs799917
BRCA1
0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 0.667 6 2009 2019
dbSNP: rs12255372
rs12255372
TCF7L2
0.667 0.480 10 113049143 intron variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.050 1.000 5 2008 2018
dbSNP: rs1805192
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.050 0.800 5 2002 2017
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.050 0.800 5 2010 2018
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.050 0.600 5 2012 2016
dbSNP: rs28934578
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.750 1.000 5 2011 2018
dbSNP: rs953038635
rs953038635
SOD2
0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.050 0.800 5 2004 2013
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 1.000 4 2006 2010
dbSNP: rs1800057
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 1.000 4 2002 2018
dbSNP: rs1800440
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 0.750 4 2006 2015
dbSNP: rs1800975
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 1.000 4 2012 2018
dbSNP: rs217727
rs217727
MRPL23 ; H19 ; HOTS
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 0.750 4 2016 2019