rs80357609, BRCA1

N. diseases: 5
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
436 0.851 0.200 17 43091827 frameshift variant TTTAC/- delins 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
802 0.851 0.200 17 43091827 frameshift variant TTTAC/- delins 0.700 0
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2106 0.851 0.200 17 43091827 frameshift variant TTTAC/- delins 0.700 1.000 20 1995 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2273 0.851 0.200 17 43091827 frameshift variant TTTAC/- delins 0.700 1.000 6 1995 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.851 0.200 17 43091827 frameshift variant TTTAC/- delins 0.700 1.000 10 1995 2016