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: rs80357367
rs80357367
BRCA1
0.851 0.200 17 43057090 stop gained G/A snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 3 2005 2017
dbSNP: rs80357367
rs80357367
BRCA1
0.851 0.200 17 43057090 stop gained G/A snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80357367
rs80357367
BRCA1
0.851 0.200 17 43057090 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs80357367
rs80357367
BRCA1
0.851 0.200 17 43057090 stop gained G/A snv
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs80357367
rs80357367
BRCA1
0.851 0.200 17 43057090 stop gained G/A snv
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2014 2014