rs80356991, BRCA1

N. diseases: 6
Source: ALL
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
2117 0.882 0.200 17 43104136 stop gained C/A;G;T snv 8.4E-05 0.700 1.000 13 1997 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 17 43104136 stop gained C/A;G;T snv 8.4E-05 0.700 1.000 9 2002 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.882 0.200 17 43104136 stop gained C/A;G;T snv 8.4E-05 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.882 0.200 17 43104136 stop gained C/A;G;T snv 8.4E-05 0.700 0
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.882 0.200 17 43104136 stop gained C/A;G;T snv 8.4E-05 0.010 1.000 1 2019 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.882 0.200 17 43104136 stop gained C/A;G;T snv 8.4E-05 0.010 1.000 1 2019 2019