rs80357906, BRCA1

N. diseases: 7
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.
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
802 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.710 0 2019 2019
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2273 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.700 1.000 18 1994 2013
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2106 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.700 1.000 15 1994 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.700 1.000 14 1994 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
314 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
436 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.700 0
PANCREATIC CANCER, SUSCEPTIBILITY TO
CUI: C3469525
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO
1 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.700 0