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: rs2070094
rs2070094
BARD1
0.882 0.080 2 214767531 missense variant C/A;T snv 1.6E-05; 0.37
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2003 2006
dbSNP: rs2214102
rs2214102
ABCB1
0.925 0.080 7 87600185 5 prime UTR variant T/A;C snv 0.95
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2010 2011
dbSNP: rs2229571
rs2229571
BARD1
0.925 0.080 2 214780740 missense variant C/G;T snv 0.54
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2007 2013
dbSNP: rs228589
rs228589
ATM ; NPAT
0.925 0.080 11 108222481 intron variant A/T snv 0.58 0.54
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2006 2007
dbSNP: rs2297381
rs2297381
RPAP1
0.925 0.080 15 41535457 intron variant C/T snv 0.41
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2012 2014
dbSNP: rs2380205
rs2380205 		0.882 0.080 10 5844771 upstream gene variant C/T snv 0.47
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 2 2010 2012
dbSNP: rs249935
rs249935
PALB2
0.925 0.080 16 23613903 intron variant T/C snv 0.13
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2016 2018
dbSNP: rs249954
rs249954
PALB2
0.925 0.080 16 23629146 intron variant G/A snv 0.31
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2008 2016
dbSNP: rs2854344
rs2854344
RB1 ; LPAR6
0.925 0.080 13 48423557 intron variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2006 2006
dbSNP: rs2959008
rs2959008
CCDC33
0.925 0.080 15 74324236 intron variant A/G snv 0.56
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2012 2019
dbSNP: rs2981745
rs2981745
DMBT1
0.925 0.080 10 122560678 5 prime UTR variant T/C snv 0.67
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2010 2012
dbSNP: rs299290
rs299290
HMMR
0.925 0.080 5 163475510 missense variant T/A;C snv 0.28
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2008 2015
dbSNP: rs3750817
rs3750817
FGFR2
0.851 0.080 10 121573063 intron variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 2 2009 2012
dbSNP: rs3785074
rs3785074
TERF2
0.925 0.080 16 69373083 intron variant A/G;T snv 0.31
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2009 2013
dbSNP: rs386654966
rs386654966
BARD1
0.882 0.080 2 214767531 missense variant CA/AG;TG mnv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2003 2006
dbSNP: rs417309
rs417309
DGCR8
0.925 0.080 22 20111021 3 prime UTR variant G/A snv 6.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2013 2018
dbSNP: rs447529
rs447529
PALB2
0.925 0.080 16 23622102 intron variant C/G snv 0.13
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2010 2018
dbSNP: rs570613
rs570613
GATA3
0.925 0.080 10 8064539 intron variant C/T snv 0.60
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2007 2009
dbSNP: rs590688
rs590688
PGR
0.925 0.080 11 101105243 intron variant C/G snv 0.47
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2013 2020
dbSNP: rs6427202
rs6427202
F5
0.925 0.080 1 169559592 intron variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2014 2018
dbSNP: rs660118
rs660118
SART1
0.807 0.080 11 65967703 missense variant G/C snv 0.46 0.36
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2010 2011
dbSNP: rs7003146
rs7003146 		0.925 0.080 8 35884126 intron variant A/G snv 3.0E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2013 2016
dbSNP: rs704010
rs704010
ZMIZ1
0.851 0.080 10 79081391 intron variant T/C snv 0.71
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 2 2010 2016
dbSNP: rs7435335
rs7435335
UGT2B7
0.925 0.080 4 69105617 intron variant G/A snv 0.19
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2018 2018
dbSNP: rs747364414
rs747364414
BRCA1
0.882 0.080 17 43082496 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2004 2010