Annotation Detail

Information
Associated Genes
IL1RN
Associated Variants
IL1A p.Ala114Ser (p.A114S) ( ENST00000263339.4 )
NC_000002.12:g.112837290A>G
IL1RN p.Ser133Arg (p.S133R) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1RN p.Ser133= (p.S133=) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
TNF c.-488G>A
IL6 c.-84-153C>G ( ENST00000404625.5 )
IL1A p.Ala114Ser (p.A114S) ( ENST00000263339.4 )
NC_000002.12:g.112837290A>G
IL1RN p.Ser133Arg (p.S133R) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1RN p.Ser133= (p.S133=) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
TNF c.-488G>A
IL6 c.-84-153C>G ( ENST00000404625.5 )
Associated Disease
multiple sclerosis
Source Database
DisGeNET
Description
Single nucleotide polymorphisms in human pro- and anti-inflammatory genes, including IL1RN VNTR (rs315952), IL1A 4845G>T (rs17561), L1B-511C>T (rs16944), IL6-174G>C (rs1800795), IL10-1082 A>G (rs 1800896) and TNFα-308G>A (rs1800629) and their impact on multiple sclerosis risk and disease progression in a Polish population were investigated.
Pubmed
21621860
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0264706148986082
Year of publication
2011
Drugs