rs41293459, BRCA1

N. diseases: 12
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 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.730 1.000 23 1994 2019
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.710 1.000 1 2012 2012
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.700 1.000 33 2001 2019
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.700 1.000 12 2001 2019
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.700 1.000 7 2012 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.030 1.000 3 2012 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.020 1.000 2 2007 2012
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.020 1.000 2 2007 2012
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.010 1.000 1 2012 2012
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.010 1.000 1 2019 2019
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.010 1.000 1 2019 2019
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.010 1.000 1 2012 2012