rs2229616
This is a variant in the MC4R gene that changes a valine to an isoleucine.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶ClinVar annotation
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 (BMIQ20); MC4R POLYMORPHISM; MC4R-related disorder; Monogenic diabetes; OBESITY, RESISTANCE TO; Obesity; not specified
View on ClinVar →About MC4R
The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010]
View all MC4R variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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