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: rs80356952
rs80356952
BRCA1
0.790 0.200 17 43093901 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 2 2005 2012
dbSNP: rs80356952
rs80356952
BRCA1
0.790 0.200 17 43093901 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs80356952
rs80356952
BRCA1
0.790 0.200 17 43093901 stop gained G/A snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 0
dbSNP: rs80356952
rs80356952
BRCA1
0.790 0.200 17 43093901 stop gained G/A snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 1.000 1 2012 2012
dbSNP: rs80356952
rs80356952
BRCA1
0.790 0.200 17 43093901 stop gained G/A snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2012 2012
dbSNP: rs80356952
rs80356952
BRCA1
0.790 0.200 17 43093901 stop gained G/A snv
CUI: C0860580
Disease: Medullary carcinoma of breast
Medullary carcinoma of breast 		0.010 1.000 1 2009 2009
dbSNP: rs80356952
rs80356952
BRCA1
0.790 0.200 17 43093901 stop gained G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2009 2009
dbSNP: rs80356952
rs80356952
BRCA1
0.790 0.200 17 43093901 stop gained G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2009 2009
dbSNP: rs80356952
rs80356952
BRCA1
0.790 0.200 17 43093901 stop gained G/A snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2012 2012