rs41293463, BRCA1

N. diseases: 9
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.
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.710 1.000 21 1994 2017
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.700 1.000 30 1994 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.700 1.000 14 1994 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.700 1.000 5 1994 2012
Acute Promyelocytic Leukemia
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
21 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.010 1.000 1 2011 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.010 1.000 1 2011 2011
Leukoencephalopathy, Progressive Multifocal
CUI: C0023524
Disease: Leukoencephalopathy, Progressive Multifocal
4 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.010 1.000 1 2011 2011
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.010 1.000 1 1999 1999
Promyelocytic leukemia
CUI: C2745900
Disease: Promyelocytic leukemia
2 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.010 1.000 1 2011 2011