Annotation Detail
Information
- Associated Genes
- TNF
- Associated Variants
-
TNFRSF1A c.625+10A>G
(
ENST00000162749.7,
ENST00000540022.5,
ENST00000440083.7 )
TNFRSF1A p.Arg121Pro (p.R121P) ( ENST00000440083.7, ENST00000540022.5, ENST00000162749.7 )
TNFRSF1A p.Arg121Gln (p.R121Q) ( ENST00000440083.7, ENST00000540022.5, ENST00000162749.7 )
TNFRSF1A c.625+10A>G ( ENST00000162749.7, ENST00000440083.7, ENST00000540022.5 )
TNFRSF1A p.Arg121Pro (p.R121P) ( ENST00000162749.7, ENST00000440083.7, ENST00000540022.5 )
TNFRSF1A p.Arg121Gln (p.R121Q) ( ENST00000162749.7, ENST00000440083.7, ENST00000540022.5 ) - Associated Disease
- multiple sclerosis
- Source Database
- DisGeNET
- Description
- To investigate the roles of 2 polymorphisms of the tumor necrosis factor (TNF) receptor superfamily member 1A (TNFRSF1A) gene, rs1800693 (a common variant) and rs4149584 (a coding polymorphism that results in an amino acid substitution-R92Q), as genetic modifiers of multiple sclerosis (MS), and to evaluate their potential functional implications in the disease.
- Pubmed
- 23624563
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0852264568346366
- Year of publication
- 2013
Drugs