Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
rs5742612
(
ENST00000644491.1 )
LAPTM4B c.603+9874T>C ( ENST00000445593.6, ENST00000521545.7, ENST00000619747.1 )
rs5742612 ( ENST00000644491.1 )
LAPTM4B c.603+9874T>C ( ENST00000445593.6, ENST00000521545.7, ENST00000619747.1 ) - Associated Disease
- Adolescent idiopathic scoliosis
- Source Database
- DisGeNET
- Description
- This study revealed that the SNPs of rs2449539 in lysosomal-associated transmembrane protein 4 beta (LAPTM4B) and rs5742612 in upstream and insulin-like growth factor 1 (IGF1) were associated with both susceptibility to and curve severity in AIS.
- Pubmed
- 23364988
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2014
Drugs