Source: ALL

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: rs80357064
rs80357064
BRCA1
0.882 0.200 17 43106478 stop lost A/C;G snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1994 2017
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
0.827 0.200 17 43124094 start lost C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1799965
rs1799965
BRCA1
0.925 0.080 17 43097246 splice region variant G/A snv 1.5E-03 1.2E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2010 2010
dbSNP: rs1800747
rs1800747
BRCA1
0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80358069
rs80358069
BRCA1
0.882 0.200 17 43057137 splice acceptor variant T/C;G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80358189
rs80358189
BRCA1
0.827 0.200 17 43074522 splice acceptor variant C/A;G;T snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
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: 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: rs397508986
rs397508986
BRCA1
0.807 0.280 17 43092919 frameshift variant G/AA delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2009 2009
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: rs80357641
rs80357641
BRCA1
0.882 0.080 17 43071164 frameshift variant CT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018
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: rs80357750
rs80357750
BRCA1
0.790 0.200 17 43115759 frameshift variant G/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs80357906
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 < 0.001 1 2019 2019
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: 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: 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: rs886039958
rs886039958
BRCA1
0.882 0.080 17 43093956 frameshift variant A/-;AA delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2007 2007
dbSNP: rs886040920
rs886040920
BRCA1
0.882 0.080 17 43095890 frameshift variant G/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2011 2011
dbSNP: rs1555580883
rs1555580883
BRCA1
1.000 0.080 17 43071096 frameshift variant T/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs273900730
rs273900730
BRCA1
0.882 0.200 17 43076579 frameshift variant TAG/AA delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs387906563
rs387906563
BRCA1
0.882 0.200 17 43094706 frameshift variant -/GCTCCACATG delins 6.0E-05; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs397507218
rs397507218
BRCA1
0.925 0.080 17 43091759 frameshift variant CC/G delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs397509067
rs397509067
BRCA1
0.882 0.200 17 43092092 frameshift variant AAAC/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs397509312
rs397509312
BRCA1
0.882 0.200 17 43094794 frameshift variant A/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0