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.

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.10
p 2.0e-78
N 1,122,049
Large GWAS
European
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele C
OR 0.10
p 6.0e-69
N 694,649
Large GWAS
European
Sidorenko J et al. “Genetic architecture reconciles linkage and association studies of complex traits.” Nature Genetics 56(11):2352-2360 (2024)
Allele C
OR 0.09
p 2.0e-49
N 650,000
Large GWAS
European

visceral adipose tissue quantity

Karlsson T et al. “Contribution of genetics to visceral adiposity and its relation to cardiovascular and metabolic disease.” Nature Medicine 25(9):1390-1395 (2019)
Allele T
OR 0.10
p 1.0e-27
N 325,153
Large GWAS
European

waist-hip ratio

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele T
OR 0.06
p 3.0e-23
N 316,772
Meta-analysisLarge GWAS
European

C-reactive protein measurement

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele T
OR 0.06
p 2.0e-18
N 575,531
Large GWAS
European
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.06
p 2.0e-12
N 355,127
Major Consortium StudyLarge GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele T
OR 0.08
p 2.0e-17
N 361,194
Large GWAS
European
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.06
p 5.0e-11
N 325,634
Major Consortium StudyLarge GWAS
multi-ancestry

hip circumference

Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele T
OR 0.08
p 5.0e-9
N 143,480
Large GWAS
multi-ancestry
▶

ClinVar annotation

Benign★★★☆
13 submitters48 publications

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…