Annotation Detail

Information
Associated Genes
CDKN1B
Associated Variants
CDKN1B p.Val109Asp (p.V109D) ( ENST00000228872.9, ENST00000614874.2, ENST00000396340.1 )
CDKN1B p.Val109Ala (p.V109A) ( ENST00000396340.1, ENST00000614874.2, ENST00000228872.9 )
CDKN1B p.Val109Gly (p.V109G) ( ENST00000228872.9, ENST00000396340.1, ENST00000614874.2 )
CDKN1B p.Val109Asp (p.V109D) ( ENST00000228872.9, ENST00000396340.1, ENST00000614874.2 )
CDKN1B p.Val109Ala (p.V109A) ( ENST00000228872.9, ENST00000396340.1, ENST00000614874.2 )
CDKN1B p.Val109Gly (p.V109G) ( ENST00000228872.9, ENST00000396340.1, ENST00000614874.2 )
Associated Disease
Carcinogenesis
Source Database
DisGeNET
Description
Further studies, either with larger sample size or involving other SNPs and haplotypes of the cyclin-dependent kinase inhibitor 1B gene, are necessary to clarify the contribution of cyclin-dependent kinase inhibitor 1B rs2066827 in breast carcinogenesis.
Pubmed
24523023
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0111291167552924
Year of publication
2014
Drugs