Source: CLINVAR

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: rs80357303
rs80357303
BRCA1
0.925 0.200 17 43071113 stop gained T/A;G snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2007 2016
dbSNP: rs80357303
rs80357303
BRCA1
0.925 0.200 17 43071113 stop gained T/A;G 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 3 2011 2015
dbSNP: rs80357303
rs80357303
BRCA1
0.925 0.200 17 43071113 stop gained T/A;G snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs80357303
rs80357303
BRCA1
0.925 0.200 17 43071113 stop gained T/A;G snv 4.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 0