rs28897672, BRCA1

N. diseases: 10
Source: CURATED ×
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.
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
1390 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.870 1.000 5 2004 2019
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
763 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.770 1.000 0 2005 2019
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
78 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.730 1.000 0 2006 2010
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
547 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.730 1.000 0 2006 2010
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2106 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.700 1.000 34 1994 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.700 1.000 11 2006 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.700 1.000 8 1998 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP S
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
28 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.700 0
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
316 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.700 0
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
CUI: C3280442
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
22 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.700 0