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: rs80357760
rs80357760
BRCA1
0.925 0.120 17 43063941 frameshift variant AA/-;AAA delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs80357760
rs80357760
BRCA1
0.925 0.120 17 43063941 frameshift variant AA/-;AAA delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs80357760
rs80357760
BRCA1
0.925 0.120 17 43063941 frameshift variant AA/-;AAA delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0