rs80357115, 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 0.790 0.200 17 43092597 stop gained A/C;T snv 0.700 1.000 11 1998 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.790 0.200 17 43092597 stop gained A/C;T snv 0.700 1.000 6 1998 2018
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.790 0.200 17 43092597 stop gained A/C;T snv 0.700 1.000 2 1998 2007
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.790 0.200 17 43092597 stop gained A/C;T snv 0.010 1.000 1 2012 2012
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.790 0.200 17 43092597 stop gained A/C;T snv 0.010 1.000 1 2010 2010
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
197 0.790 0.200 17 43092597 stop gained A/C;T snv 0.010 1.000 1 2010 2010
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.790 0.200 17 43092597 stop gained A/C;T snv 0.010 1.000 1 2012 2012
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.790 0.200 17 43092597 stop gained A/C;T snv 0.010 1.000 1 2012 2012