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: rs28897672
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 1998 2015
dbSNP: rs62625308
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 1997 2015
dbSNP: rs80187739
rs80187739
BRCA1
0.851 0.200 17 43067608 missense variant C/A;G;T snv 1.2E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 2005 2019
dbSNP: rs80356862
rs80356862
BRCA1
0.925 0.200 17 43071046 missense variant G/C snv 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 2003 2014
dbSNP: rs80357150
rs80357150
BRCA1
0.925 0.200 17 43106528 missense variant C/A;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 2001 2019
dbSNP: rs80358047
rs80358047
BRCA1
0.925 0.200 17 43099773 splice donor variant A/T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 1997 2015
dbSNP: rs80358061
rs80358061
BRCA1
0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 1994 2013
dbSNP: rs80358150
rs80358150
BRCA1
0.925 0.200 17 43057051 splice donor variant C/A;G;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 2001 2014
dbSNP: rs80356962
rs80356962
BRCA1
0.807 0.200 17 43047666 stop gained C/G;T snv 4.0E-06 7.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 7 1996 2016
dbSNP: rs80356989
rs80356989
BRCA1
0.882 0.200 17 43082539 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 7 1997 2015
dbSNP: rs80356997
rs80356997
BRCA1
0.925 0.200 17 43076583 stop gained G/A;C;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 7 2003 2017
dbSNP: rs80357063
rs80357063
BRCA1
0.925 0.200 17 43093222 stop gained G/A;C;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 7 1998 2015
dbSNP: rs80357268
rs80357268
BRCA1
0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 7 2004 2013
dbSNP: rs80357382
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 7 2001 2019
dbSNP: rs80357433
rs80357433
BRCA1
0.851 0.200 17 43071225 stop gained G/A;C snv 4.0E-06 1.4E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 7 1996 2012
dbSNP: rs80358158
rs80358158
BRCA1
0.925 0.200 17 43106534 splice acceptor variant C/A;G;T snv 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 7 1997 2019
dbSNP: rs80356923
rs80356923
BRCA1
0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 6 1997 2015
dbSNP: rs80357104
rs80357104
BRCA1
0.925 0.200 17 43063361 missense variant G/A;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 6 2003 2014
dbSNP: rs80357123
rs80357123
BRCA1
0.827 0.200 17 43057078 stop gained G/A;C;T snv 1.2E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 6 1997 2015
dbSNP: rs80357260
rs80357260
BRCA1
0.925 0.200 17 43090946 stop gained G/A snv 4.1E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 6 1996 2014
dbSNP: rs397509283
rs397509283
BRCA1
0.925 0.200 17 43047679 stop gained G/A snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 5 1999 2015
dbSNP: rs41293463
rs41293463
BRCA1
0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 5 1994 2012
dbSNP: rs62625307
rs62625307
BRCA1
0.827 0.200 17 43091933 stop gained G/A snv 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 5 1998 2015
dbSNP: rs80356857
rs80356857
BRCA1
0.925 0.200 17 43090944 missense variant C/G;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 5 1995 2019
dbSNP: rs80357086
rs80357086
BRCA1
0.851 0.200 17 43106480 stop gained A/G;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 5 1995 2016