Annotation Detail

Information
Associated Genes
HYKK
Associated Variants
HYKK c.337+256T>C ( ENST00000569878.5, ENST00000566332.5, ENST00000388988.9 )
CHRNA3 p.Tyr215= (p.Y215=) ( ENST00000348639.7, ENST00000326828.6 )
HYKK c.337+256T>C ( ENST00000388988.9, ENST00000566332.5, ENST00000569878.5 )
CHRNA3 p.Tyr215= (p.Y215=) ( ENST00000326828.6, ENST00000348639.7 )
Associated Disease
Carcinoma of lung
Source Database
DisGeNET
Description
Our findings demonstrated that CHRNA3 gene rs1051730-A allele and AGPHD1 gene rs8034191-T allele might be risk-conferring factors for the development of lung cancer in Caucasians, but not in East-Asians.
Pubmed
22701590
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00190009310456212
Year of publication
2012
Drugs