Annotation Detail

Information
Associated Genes
NBN
Associated Variants
NBN p.Glu185Gln (p.E185Q) ( ENST00000265433.8, ENST00000409330.5, ENST00000517337.2, ENST00000523444.2, ENST00000697292.1, ENST00000697293.1, ENST00000697298.1, ENST00000697299.1, ENST00000697304.1, ENST00000697307.1, ENST00000697308.1, ENST00000697309.1, ENST00000697310.1 )
NBN p.Glu185Gln (p.E185Q) ( ENST00000265433.8, ENST00000409330.5, ENST00000517337.2, ENST00000523444.2, ENST00000697292.1, ENST00000697293.1, ENST00000697298.1, ENST00000697299.1, ENST00000697304.1, ENST00000697307.1, ENST00000697308.1, ENST00000697309.1, ENST00000697310.1 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
Association between the NBS1 Glu185Gln polymorphism and breast cancer risk: a meta-analysis.
Pubmed
23381647
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.193953212689226
Year of publication
2013
Drugs