BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80359601
rs80359601
0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx
Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0