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rs13447325

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs13447325(A;T)
Make rs13447325(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position60372240
GeneMC4R
is asnp
is mentioned by
dbSNPrs13447325
ebirs13447325
HLIrs13447325
Exacrs13447325
Varsomers13447325
Maprs13447325
PheGenIrs13447325
hapmaprs13447325
1000 genomesrs13447325
hgdprs13447325
ensemblrs13447325
gopubmedrs13447325
geneviewrs13447325
scholarrs13447325
googlers13447325
pharmgkbrs13447325
gwascentralrs13447325
openSNPrs13447325
23andMers13447325
23andMe allrs13447325
SNP Nexus

SNPshotrs13447325
SNPdbers13447325
MSV3drs13447325
GWAS Ctlgrs13447325
Max Magnitude0
OMIM155541
Desc
Variant0004
Relatedalso
ClinVar
Risk rs13447325(T;T)
Alt rs13447325(T;T)
Reference rs13447325(A;A)
Significance Pathogenic
Disease Obesity
Variation info
Gene MC4R
CLNDBN Obesity
Reversed 1
HGVS NC_000018.9:g.58039473T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015395.29,


[PMID 18559] Cyclic GMP in a neuroblastoma clone: possible involvement in morphological differentiation induced by dibutyryl cyclic AMP.


[PMID 10199800] Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.


[PMID 12499395] Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.


[PMID 16274851] Obesity-associated mutations in the human melanocortin-4 receptor gene.


[PMID 16507637] Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.


[PMID 16752916] Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist.