rs80356885, BRCA1

N. diseases: 6
Source: CURATED ×
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 0.827 0.200 17 43074482 stop gained C/T snv 0.700 1.000 12 2001 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.827 0.200 17 43074482 stop gained C/T snv 0.700 1.000 8 2001 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.827 0.200 17 43074482 stop gained C/T snv 0.700 1.000 4 2001 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP S
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
28 0.827 0.200 17 43074482 stop gained C/T snv 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
1390 0.827 0.200 17 43074482 stop gained C/T snv 0.700 0
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
CUI: C3280442
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
22 0.827 0.200 17 43074482 stop gained C/T snv 0.700 0