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: rs28997576
rs28997576
BARD1
0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.080 0.625 8 2006 2012
dbSNP: rs1048108
rs1048108
BARD1 ; SNHG31
0.827 0.120 2 214809500 missense variant G/A snv 0.38 0.33
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2007 2013
dbSNP: rs113211432
rs113211432
BARD1
0.882 0.080 2 214767532 frameshift variant -/TG delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2003 2006
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: 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: 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: rs1262069856
rs1262069856
BARD1
1.000 0.080 2 214728724 stop gained C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2005 2005
dbSNP: rs142155101
rs142155101
BARD1
0.925 0.120 2 214728728 missense variant C/T snv 1.7E-03 1.5E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2005 2005
dbSNP: rs376256852
rs376256852
BARD1
0.925 0.080 2 214745739 missense variant G/A;T snv 8.0E-06; 1.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs587782555
rs587782555
BARD1
0.882 0.080 2 214728935 missense variant A/G snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs61754118
rs61754118
BARD1
1.000 0.080 2 214728798 missense variant T/C snv 7.7E-03 7.4E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2005 2005