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: rs397509019
rs397509019
BRCA1
0.882 0.080 17 43092674 frameshift variant AA/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs886039920
rs886039920
BRCA1
0.807 0.160 17 43115755 frameshift variant ACAGG/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs80357660
rs80357660
BRCA1
0.851 0.200 17 43106497 frameshift variant C/-;CC delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2009 2009
dbSNP: rs1800744
rs1800744
BRCA1
0.925 0.080 17 43074471 missense variant C/A snv 2.4E-03 2.4E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2002 2002
dbSNP: rs397509205
rs397509205
BRCA1
0.882 0.080 17 43070984 stop gained C/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2009 2009
dbSNP: rs8176318
rs8176318
BRCA1
0.807 0.120 17 43045257 3 prime UTR variant C/A snv 0.34 0.29
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2016 2016
dbSNP: rs748876625
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.740 0.958 4 1994 2017
dbSNP: rs863224765
rs863224765
BRCA1
0.851 0.200 17 43051086 missense variant C/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2016 2016
dbSNP: rs41293459
rs41293459
BRCA1
0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.730 1.000 3 1994 2019
dbSNP: rs80357125
rs80357125
BRCA1
0.882 0.080 17 43063940 missense variant C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2003 2006
dbSNP: rs80356914
rs80356914
BRCA1
0.851 0.200 17 43045759 stop gained C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2016 2016
dbSNP: rs80357112
rs80357112
BRCA1
0.882 0.080 17 43051063 missense variant C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2012 2012
dbSNP: rs4986850
rs4986850
BRCA1
0.851 0.080 17 43093454 missense variant C/A;T snv 5.8E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs786202998
rs786202998
BRCA1
0.851 0.080 17 43091030 stop gained C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018
dbSNP: rs876660267
rs876660267
BRCA1
0.925 0.080 17 43093295 missense variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs80357368
rs80357368
BRCA1
0.925 0.080 17 43045748 missense variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2007 2007
dbSNP: rs876658341
rs876658341
BRCA1
0.925 0.080 17 43091811 missense variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2004 2004
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
dbSNP: rs80357060
rs80357060
BRCA1
0.925 0.080 17 43093169 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2003 2007
dbSNP: rs1296005499
rs1296005499
BRCA1
1.000 0.080 17 43045746 missense variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2005 2005
dbSNP: rs1799967
rs1799967
BRCA1
0.925 0.080 17 43070958 missense variant C/T snv 1.8E-02 1.4E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2019 2019
dbSNP: rs3737559
rs3737559
BRCA1
0.882 0.120 17 43082287 intron variant C/T snv 6.9E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2011 2011
dbSNP: rs80357090
rs80357090
BRCA1
0.882 0.200 17 43097266 missense variant C/T snv 3.0E-04 2.2E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 0.952 1 1994 2017
dbSNP: rs80357138
rs80357138
BRCA1
0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2002 2002
dbSNP: rs80357191
rs80357191
BRCA1
0.925 0.080 17 43091792 missense variant C/T snv 9.6E-05 6.3E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2010 2010