Annotation Detail
Information
- Associated Genes
- CHEK2
- Associated Variants
-
CHEK2 p.Ile200Thr (p.I200T)
(
ENST00000348295.7,
ENST00000382580.6,
ENST00000402731.6,
ENST00000403642.5,
ENST00000404276.6,
ENST00000405598.5,
ENST00000425190.7,
ENST00000649563.1,
ENST00000650281.1 )
CHEK2 p.Ile200Thr (p.I200T) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 ) - Associated Disease
- Malignant neoplasm of lung
- Source Database
- DisGeNET
- Description
- Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
- Pubmed
- 24880342
- Original source reporting the Gene Disease association
- GWASCAT
- DisGENET score for the Gene Disease association
- 0.129815514656609
- Year of publication
- 2014
Drugs