rs80356923, BRCA1

N. diseases: 5
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 43091891 stop gained C/A;T snv 9.9E-05 0.710 1.000 10 1996 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 0.700 1.000 20 1994 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 0.700 1.000 6 1997 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 0.700 1.000 6 1996 2014
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 0.700 0