Annotation Detail
Information
- Associated Genes
- ATOH7
- Associated Variants
-
rs1900004
CHEK2 c.976-1157A>G ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000464581.6, ENST00000649563.1, ENST00000650281.1 )
CDKN2B c.*2619C>T ( ENST00000276925.7 )
rs1900004
CHEK2 c.976-1157A>G ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000464581.6, ENST00000649563.1, ENST00000650281.1 )
CDKN2B c.*2619C>T ( ENST00000276925.7 ) - Associated Disease
- low tension glaucoma
- Source Database
- DisGeNET
- Description
- The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG, and the rs1547014 (CHEK2) is a genetic risk factor for HTG.
- Pubmed
- 22584021
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2012
Drugs