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rs52804924

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs52804924(G;T)
Make rs52804924(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position60371454
GeneMC4R
is asnp
is mentioned by
dbSNPrs52804924
ebirs52804924
HLIrs52804924
Exacrs52804924
Varsomers52804924
Maprs52804924
PheGenIrs52804924
hapmaprs52804924
1000 genomesrs52804924
hgdprs52804924
ensemblrs52804924
gopubmedrs52804924
geneviewrs52804924
scholarrs52804924
googlers52804924
pharmgkbrs52804924
gwascentralrs52804924
openSNPrs52804924
23andMers52804924
23andMe allrs52804924
SNP Nexus

SNPshotrs52804924
SNPdbers52804924
MSV3drs52804924
GWAS Ctlgrs52804924
Max Magnitude0
ClinVar
Risk rs52804924(T;T)
Alt rs52804924(T;T)
Reference rs52804924(G;G)
Significance Pathogenic
Disease Obesity
Variation info
Gene MC4R
CLNDBN Obesity
Reversed 0
HGVS NC_000018.9:g.58038687G>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030160.1,



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


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


[PMID 17357083OA-icon.png] Medical sequencing at the extremes of human body mass.


[PMID 19091795OA-icon.png] Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.