rs62625308, 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
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 1.000 18 1994 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 1.000 8 1997 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 1.000 7 1994 2017
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 1.000 1 2004 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 0
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 0
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.010 1.000 1 2019 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.010 1.000 1 2019 2019