rs41293459, BRCA1

N. diseases: 4
Source: CLINVAR ×
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.
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
436 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.710 1.000 0 2012 2012
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2106 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
2273 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
6385 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.700 1.000 7 2012 2018