{{Rsnum
|rsid=12970134
|Gene=MC4R
|Chromosome=18
|position=60217517
|Orientation=plus
|GMAF=0.2011
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 3.5 | 48.7 | 47.8
| HCB | 2.9 | 29.9 | 67.2
| JPT | 4.4 | 31.9 | 63.7
| YRI | 3.4 | 27.2 | 69.4
| ASW | 1.8 | 23.2 | 75.0
| CHB | 2.9 | 29.9 | 67.2
| CHD | 2.8 | 26.6 | 70.6
| GIH | 8.9 | 40.6 | 50.5
| LWK | 3.6 | 18.2 | 78.2
| MEX | 8.6 | 29.3 | 62.1
| MKK | 2.6 | 28.2 | 69.2
| TSI | 7.8 | 47.1 | 45.1
| HapMapRevision=28
}}A study of 14,000 Indian Asian or Caucasian adults indicates that [[rs12970134]](A) alleles are associated with [[obesity]]. The average increase in waist circumference is 0.9cm BMI units per risk allele. {{PMID|18454146}}  see also [http://blog.23andme.com/2008/05/04/snpwatch-mc4r-gene-associated-with-body-mass/]

{{GWAS Summary
|SNP=rs12970134
|PubMedID=18454146
|Condition=Waist circumference and related phenotypes
|Gene=MC4R
|Risk Allele=A
|pValue=2.00E-009
|OR=0.88
|95CI=0.59-1.17) cm increas
}}

{{PMID Auto GWAS
|PMID=19079260
|Trait=Body mass index
|Title=Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity
|RiskAllele=A
|Pval=1E-12
|OR=4.38
|ORtxt=[3.16-5.60] % SD
}}

{{omim
|desc=OBESITY
|id=601665
|rsnum=12970134
}}

{{omim
|desc=MELANOCORTIN 4 RECEPTOR; MC4R
|id=155541
|rsnum=12970134
}}
{{PMID Auto
|PMID=19680233
|Title=Replication of Association Between a Common Variant Near Melanocortin-4 Receptor Gene and Obesity-related Traits in Asian Sikhs
}}

{{PharmGKB
|RSID=rs12970134
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:19079260; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (Initial Sample Size: 80,969 individuals; Replication Sample Size: 11,036 individuals); (Region: 18q21.32; Reported Gene(s): MC4R; Risk Allele: rs12970134-A); (p-value= 0.0000000000005).This variant is associated with Weight.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740168
}}

{{PMID Auto
|PMID=20181787
|Title=A Variant in the Fat Mass and Obesity-Associated Gene (FTO) and Variants near the Melanocortin-4 Receptor Gene (MC4R) Do Not Influence Dietary Intake
}}

{{PharmGKB
|RSID=rs12970134
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:18454146; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Common genetic variation near MC4R is associated with waist circumference and insulin resistance (Initial Sample Size: 2,684 Asian Indian men; Replication Sample Size: 11,955 Asian Indian and European individuals; Risk Allele: rs12970134-A). This variant is associated with Waist circumference and related phenotypes.
|Drugs=
|Drug Classes=
|Diseases=Obesity
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356414
}}

{{PharmGKB
|RSID=rs12970134
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:19079260; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (Initial Sample Size: 80,969 individuals; Replication Sample Size: 11,036 individuals); (Region: 18q21.32; Reported Gene(s): MC4R; Risk Allele: rs12970134-A); (p-value= 0.000000000001).This variant is associated with Body mass index.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740146
}}
{{PMID Auto
|PMID=21085626
|Title=Investigation of a Genome Wide Association Signal for Obesity: Synthetic Association and Haplotype Analyses at the Melanocortin 4 Receptor Gene Locus
|OA=1
}}

{{PMID Auto
|PMID=21625854
|Title=Implication of genetic variants near TMEM18, BCDIN3D/FAIM2, and MC4R with coronary artery disease and obesity in Chinese: a angiography-based study
}}

{{PMID|18697794|OA=1
}} The common obesity variant near MC4R gene is associated with higher intakes of total energy and dietary fat, weight change and diabetes risk in women.

{{PMID|19073769|OA=1
}} Variants near MC4R are associated with obesity and influence obesity-related quantitative traits in a population of middle-aged people: studies of 14,940 Danes.

{{PMID|19265794|OA=1
}} Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry.

{{PMID|19478790|OA=1
}} The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI.

{{PMID|20092643|OA=1
}} Large effects on body mass index and insulin resistance of fat mass and obesity associated gene (FTO) variants in patients with polycystic ovary syndrome (PCOS).

{{PMID|20127379|OA=1
}} From monogenic to polygenic obesity: recent advances.

{{PMID|20694148|OA=1
}} A genome-wide association study of the metabolic syndrome in Indian Asian men.

{{PMID|20712903|OA=1
}} Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.

{{PMID|21283731|OA=1
}} FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome.

{{PMID|21372613}} Common variants near MC4R: exploring gender effects in overweight and obese children and adolescents participating in a lifestyle intervention.

{{PMID|21736789}} A variant near the melanocortin-4 receptor gene regulates postprandial lipid metabolism in a healthy Caucasian population.

{{PMID Auto
|PMID=23049848
|Title=Association between Common Polymorphism near the MC4R Gene and Obesity Risk: A Systematic Review and Meta-Analysis
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12970134
|overall_frequency_n=26
|overall_frequency_d=128
|overall_frequency=0.203125
|n_genomes=23
|n_genomes_annotated=0
|n_haplomes=26
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23512951
|Title=Variation at the melanocortin 4 receptor gene and response to weight-loss interventions in the diabetes prevention program
|OA=1
}}

{{PMID Auto
|PMID=23151679
|Title=Strong influence of variants near MC4R on adiposity in children and adults: a cross-sectional study in Indian population
}}

{{PMID Auto
|PMID=23408508
|Title=Obesity-susceptibility loci and the tails of the pediatric BMI distribution
|OA=1
}}

{{PMID Auto
|PMID=22869321
|Title=Common polymorphism near the MC4R gene is associated with type 2 diabetes: data from a meta-analysis of 123,373 individuals.
}}

{{PMID Auto
|PMID=25093408
|Title=Obesity-Related Genomic Loci Are Associated with Type 2 Diabetes in a Han Chinese Population
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}