Annotation Detail

Information
Associated Genes
CDKN2B
Associated Variants
CDKN2A c.150+459T>C ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 )
rs573687
rs615552
rs564398
CDKN2A c.150+459T>C ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 )
rs573687
rs615552
rs564398
Associated Disease
squamous cell carcinoma
Source Database
DisGeNET
Description
In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and rs564398 in CDKN2BAS) showed significant associations with ESCC and EC (P<2.46 × 10(-4)).
Pubmed
23361049
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0118873605447409
Year of publication
2013
Drugs