Annotation Detail

Information
Associated Genes
IL1B
Associated Variants
IL6R p.Asp358Ala (p.D358A) ( ENST00000368485.8, ENST00000344086.8 )
IL6R p.Asp358Val (p.D358V) ( ENST00000368485.8, ENST00000344086.8 )
NC_000002.12:g.112837290A>G
VEGFA c.-2055A>C
IL6 c.-84-153C>G ( ENST00000404625.5 )
IL6R p.Asp358Ala (p.D358A) ( ENST00000344086.8, ENST00000368485.8 )
IL6R p.Asp358Val (p.D358V) ( ENST00000344086.8, ENST00000368485.8 )
NC_000002.12:g.112837290A>G
VEGFA c.-2055A>C
IL6 c.-84-153C>G ( ENST00000404625.5 )
Associated Disease
carpal tunnel syndrome
Source Database
DisGeNET
Description
One hundred and three self-reported Coloured participants, with a history of carpal tunnel release surgery (CTS) and 149 matched control participants (CON) without any reported history of CTS symptoms were genotyped for the functional IL-1β rs16944 (-511C/T), IL-6 rs1800795 (-174G/C), IL-6R rs2228145 (C/A) and VEGFA rs699947 (-2578C/A) variants.
Pubmed
25813875
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2015
Drugs