rs397507643, BRCA2

N. diseases: 2
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.
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
314 1.000 13 32337181 frameshift variant TTAA/- delins 0.700 1.000 1 2004 2004
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 1.000 13 32337181 frameshift variant TTAA/- delins 0.700 0