Annotation Detail
Information
- Associated Genes
- IL4R
- Associated Variants
-
IL4R p.Gln576Arg (p.Q576R)
(
ENST00000543915.6,
ENST00000170630.6,
ENST00000395762.7 )
IL4R p.Gln576Arg (p.Q576R) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 ) - Associated Disease
- Hypercholesterolemia, Familial
- Source Database
- DisGeNET
- Description
- rs1801275 Interleukin-4 receptor alpha polymorphism in familial hypercholesterolemia.
- Pubmed
- 25110223
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs