rs80357086, 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 0.851 0.200 17 43106480 stop gained A/G;T snv 0.710 1.000 10 1995 2019
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2273 0.851 0.200 17 43106480 stop gained A/G;T snv 0.700 1.000 5 1995 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.851 0.200 17 43106480 stop gained A/G;T snv 0.700 1.000 4 1995 2015
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
314 0.851 0.200 17 43106480 stop gained A/G;T snv 0.700 0