rs575595017, BRIP1

N. diseases: 4
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.280 17 61859808 stop gained G/A snv 1.2E-05 0.700 1.000 1 2011 2011
FANCONI ANEMIA, COMPLEMENTATION GROUP J
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
141 0.882 0.280 17 61859808 stop gained G/A snv 1.2E-05 0.700 0
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.882 0.280 17 61859808 stop gained G/A snv 1.2E-05 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.882 0.280 17 61859808 stop gained G/A snv 1.2E-05 0.700 0