Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A c.*233C>T
(
ENST00000304494.10,
ENST00000498124.1,
ENST00000498628.6,
ENST00000530628.2,
ENST00000578845.2,
ENST00000579122.1,
ENST00000579755.2 )
CDKN2A c.*233C>T ( ENST00000304494.10, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- Statistically significant association with melanoma risk was also observed for the carriers of the variant T-allele of rs3088440 (540 C>T) at the 3' UTR of CDKN2A gene with an OR 1.52 (95% CI 1.14-2.04).
- Pubmed
- 23816148
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2013
Drugs