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: rs80357956
rs80357956
BRCA1
0.851 0.080 17 43091982 frameshift variant TT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2011 2011
dbSNP: rs28897680
rs28897680
BRCA1
0.925 0.080 17 43093471 missense variant T/G snv 4.0E-06 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2015 2015
dbSNP: rs56012641
rs56012641
BRCA1
0.925 0.080 17 43093883 missense variant T/G snv 2.6E-04 2.9E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2006 2006
dbSNP: rs730881446
rs730881446
BRCA1
0.925 0.080 17 43049149 missense variant T/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2013 2013
dbSNP: rs786203965
rs786203965
BRCA1
0.925 0.080 17 43093612 missense variant T/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2015 2015
dbSNP: rs876659991
rs876659991
BRCA1
0.925 0.080 17 43057092 missense variant T/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2013 2013
dbSNP: rs16941
rs16941
BRCA1
0.827 0.240 17 43092418 missense variant T/C;G snv 0.35
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2004 2004
dbSNP: rs777515082
rs777515082
BRCA1
0.925 0.080 17 43099811 missense variant T/C;G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2015 2015
dbSNP: rs80357163
rs80357163
BRCA1
0.925 0.080 17 43115736 missense variant T/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2010 2010
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2002 2018
dbSNP: rs1216516227
rs1216516227
BRCA1
0.925 0.080 17 43094612 missense variant T/C snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2019 2019
dbSNP: rs369982706
rs369982706
BRCA1
0.925 0.080 17 43091951 missense variant T/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2007 2007
dbSNP: rs56187033
rs56187033
BRCA1
0.851 0.200 17 43099786 missense variant T/C snv 2.6E-04 2.9E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2006 2006
dbSNP: rs786203671
rs786203671
BRCA1
0.925 0.080 17 43094025 synonymous variant T/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2009 2009
dbSNP: rs80357382
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2008 2008
dbSNP: rs967624732
rs967624732
BRCA1
0.925 0.080 17 43097269 missense variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2012 2012
dbSNP: rs16942
rs16942
BRCA1
0.882 0.080 17 43091983 missense variant T/A;C snv 0.35 0.31
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2011 2011
dbSNP: rs1799966
rs1799966
BRCA1
0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2014 2019
dbSNP: rs273898682
rs273898682
BRCA1
0.925 0.080 17 43093245 missense variant T/A;C snv 1.4E-04 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs80357482
rs80357482
BRCA1
0.925 0.080 17 43094695 missense variant T/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2011 2011
dbSNP: rs886037971
rs886037971
BRCA1
0.882 0.200 17 43106457 frameshift variant T/-;TT delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs80357796
rs80357796
BRCA1
0.752 0.240 17 43094464 frameshift variant T/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2002 2008
dbSNP: rs80357610
rs80357610
BRCA1
0.851 0.160 17 43094550 frameshift variant GT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2010 2015
dbSNP: rs183557525
rs183557525
BRCA1
0.925 0.080 17 43115753 missense variant G/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014
dbSNP: rs55971303
rs55971303
BRCA1
0.851 0.120 17 43104138 missense variant G/T snv 1.0E-04 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 1994 2017