rs80357086, BRCA1

N. diseases: 8
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
2117 0.851 0.200 17 43106480 stop gained A/G;T snv 0.710 1.000 11 1995 2019
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 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
6387 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
385 0.851 0.200 17 43106480 stop gained A/G;T snv 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.851 0.200 17 43106480 stop gained A/G;T snv 0.010 1.000 1 2019 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.851 0.200 17 43106480 stop gained A/G;T snv 0.010 1.000 1 2019 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.851 0.200 17 43106480 stop gained A/G;T snv 0.010 1.000 1 2019 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.851 0.200 17 43106480 stop gained A/G;T snv 0.010 1.000 1 2019 2019