Annotation Detail
Information
- Associated Genes
- CALM2
- Associated Variants
-
CALM2 SNV
CALM1 c.-218C>T
CALM1 c.*417T>C ( ENST00000356978.9 )
CALM2 SNV
CALM1 c.-218C>T
CALM1 c.*417T>C ( ENST00000356978.9 ) - Associated Disease
- Dissecting aneurysm of the thoracic aorta
- Source Database
- DisGeNET
- Description
- The susceptibility of PUMC type II (double curve) AIS and lumbar curve might be related to CALM1 rs12885713 site polymorphism, while rs5871 site polymorphism might be a risk indicator for thoracic curve cases.
- Pubmed
- 22009783
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2009
Drugs