rs80357233, BRCA1

N. diseases: 4
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.
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2106 0.882 0.200 17 43093393 stop gained G/C;T snv 4.0E-06 0.700 1.000 10 2001 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.882 0.200 17 43093393 stop gained G/C;T snv 4.0E-06 0.700 1.000 3 2001 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2273 0.882 0.200 17 43093393 stop gained G/C;T snv 4.0E-06 0.700 0
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
20 0.882 0.200 17 43093393 stop gained G/C;T snv 4.0E-06 0.700 0