Annotation Detail

Information
Associated Genes
IL6R
Associated Variants
IL6R p.Asp358Ala (p.D358A) ( ENST00000368485.8, ENST00000344086.8 )
IL6R p.Asp358Val (p.D358V) ( ENST00000368485.8, ENST00000344086.8 )
IL6R p.Asp358Ala (p.D358A) ( ENST00000344086.8, ENST00000368485.8 )
IL6R p.Asp358Val (p.D358V) ( ENST00000344086.8, ENST00000368485.8 )
Associated Disease
aortic valve stenosis
Source Database
DisGeNET
Description
Interleukin-6 receptor Asp358Ala gene polymorphism is associated with plasma C-reactive protein levels and severity of aortic valve stenosis.
Pubmed
24717336
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs