Annotation Detail

Information
Associated Genes
IL6R
Associated Variants
IL6R MUTATION
IL6R MUTATION
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
diabetes mellitus
Source Database
DisGeNET
Description
IL6R genetic variations, especially SNP7 (rs8192284, Asp358Ala), were significantly associated with plasma IL-6 levels but not with diabetes risk in women.
Pubmed
17898129
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00290991572276264
Year of publication
2007
Drugs