Annotation Detail

Information
Associated Genes
IL17RE
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 )
ENSG00000288550 p.Ser111Leu (p.S111L), IL17RC p.Ser182Leu (p.S182L) ( ENST00000295981.7, ENST00000383812.9, ENST00000403601.8, ENST00000413608.2, ENST00000416074.6, ENST00000438091.6, ENST00000451165.7, ENST00000455057.5, ENST00000483582.5, ENST00000696816.1, ENST00000696823.1, ENST00000696824.1, ENST00000696825.1, ENST00000696826.1, ENST00000696828.1, ENST00000696830.1, ENST00000696832.1 )
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 )
ENSG00000288550 p.Ser111Leu (p.S111L), IL17RC p.Ser182Leu (p.S182L) ( ENST00000295981.7, ENST00000383812.9, ENST00000403601.8, ENST00000413608.2, ENST00000416074.6, ENST00000438091.6, ENST00000451165.7, ENST00000455057.5, ENST00000483582.5, ENST00000696816.1, ENST00000696823.1, ENST00000696824.1, ENST00000696825.1, ENST00000696826.1, ENST00000696828.1, ENST00000696830.1, ENST00000696832.1 )
Associated Disease
anemia
Source Database
DisGeNET
Description
Furthermore, IL17RE rs708567 GA and hHbS rs334 AT individuals were associated with protection from uncomplicated malaria and anaemia respectively in this study.
Pubmed
24312262
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2013
Drugs