Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
rs2036527
CHRNA3 c.*1114T>C ( ENST00000326828.6, ENST00000348639.7 )
CHRNA3 p.Val53= (p.V53=) ( ENST00000348639.7, ENST00000326828.6 )
CHRNB4 c.*76T>C ( ENST00000412074.6, ENST00000261751.8 )
CLPTM1L c.1532+595C>T ( ENST00000320895.10, ENST00000507807.3, ENST00000630539.1 )
rs2036527
CHRNA3 c.*1114T>C ( ENST00000326828.6, ENST00000348639.7 )
CHRNA3 p.Val53= (p.V53=) ( ENST00000326828.6, ENST00000348639.7 )
CHRNB4 c.*76T>C ( ENST00000261751.8, ENST00000412074.6 )
CLPTM1L c.1532+595C>T ( ENST00000320895.10, ENST00000507807.3, ENST00000630539.1 ) - Associated Disease
- Malignant neoplasm of lung
- Source Database
- DisGeNET
- Description
- Single-nucleotide polymorphisms rs421629 on 5p15.33 and rs1948, rs660652, rs8040868 and rs2036527 on 15q25.1, previously identified as lung cancer risk or nicotine-addiction modifiers, were associated with tumor DNA methylation levels in the promoters of TERT and CHRNB4 (P<0.001), respectively, in two independent sample sets (n=82; n=150).
- Pubmed
- 22945651
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.155418265155594
- Year of publication
- 2013
Drugs