rs80357610, BRCA1

N. diseases: 7
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-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.851 0.160 17 43094550 frameshift variant GT/- delins 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.851 0.160 17 43094550 frameshift variant GT/- delins 0.020 1.000 2 2010 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.851 0.160 17 43094550 frameshift variant GT/- delins 0.020 1.000 2 2010 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.851 0.160 17 43094550 frameshift variant GT/- delins 0.010 1.000 1 2006 2006
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.851 0.160 17 43094550 frameshift variant GT/- delins 0.010 1.000 1 2013 2013
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.851 0.160 17 43094550 frameshift variant GT/- delins 0.010 1.000 1 2006 2006
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
111 0.851 0.160 17 43094550 frameshift variant GT/- delins 0.010 1.000 1 2013 2013