Annotation Detail
Information
- Associated Genes
- OR10A4
- Associated Variants
-
HBB p.Glu7Val (p.E7V)
(
ENST00000647020.1,
ENST00000485743.1,
ENST00000335295.4 )
HBB p.Glu7Gly (p.E7G) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu7Ala (p.E7A) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HP c.-131C>G ( ENST00000355906.10 )
HP c.-91A>C ( ENST00000355906.10 )
HP c.-91A>G ( ENST00000355906.10 )
HBB p.Glu7Val (p.E7V) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu7Gly (p.E7G) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu7Ala (p.E7A) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HP c.-131C>G ( ENST00000355906.10 )
HP c.-91A>C ( ENST00000355906.10 )
HP c.-91A>G ( ENST00000355906.10 ) - Associated Disease
- Sickle Cell Trait
- Source Database
- DisGeNET
- Description
- The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children.
- Pubmed
- 20552021
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2010
Drugs