rs1799966, 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.
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 0.020 0.500 2 2014 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 0.020 0.500 2 2014 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 0.020 0.500 2 2007 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 0.020 0.500 2 2007 2018
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
277 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 0.010 1.000 1 2017 2017
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 0.010 1.000 1 2014 2014
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 0.010 1.000 1 2017 2017
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
111 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 0.010 1.000 1 2014 2014