Annotation Detail
Information
- Associated Genes
- CYBA
- Associated Variants
-
CYBA p.Tyr72His (p.Y72H)
(
ENST00000696162.1,
ENST00000696157.1,
ENST00000696161.1,
ENST00000696156.1,
ENST00000261623.8,
ENST00000696158.1,
ENST00000569359.5,
ENST00000696163.1,
ENST00000696159.1,
ENST00000567174.5,
ENST00000696160.1 )
ENSG00000250349 c.171+359172C>G, CYBB c.252+1572C>G ( ENST00000378588.5, ENST00000696171.1 )
CYBA p.Tyr72His (p.Y72H) ( ENST00000261623.8, ENST00000567174.5, ENST00000569359.5, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 )
ENSG00000250349 c.171+359172C>G, CYBB c.252+1572C>G ( ENST00000378588.5, ENST00000696171.1 ) - Associated Disease
- Sleep Apnea, Obstructive
- Source Database
- DisGeNET
- Description
- The frequencies of NADPH oxidase (NOX) polymorphisms in the p22phox subunit were similar between children with OSA and controls, except for rs6520785 and rs4673, the latter being significantly more frequent among the OSA children without deficits than with deficits (p<0.02).
- Pubmed
- 21902598
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00318135759484294
- Year of publication
- 2012
Drugs