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rs13447324

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs13447324(A;A)
Make rs13447324(A;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position60372245
GeneMC4R
is asnp
is mentioned by
dbSNPrs13447324
ebirs13447324
HLIrs13447324
Exacrs13447324
Varsomers13447324
Maprs13447324
PheGenIrs13447324
hapmaprs13447324
1000 genomesrs13447324
hgdprs13447324
ensemblrs13447324
gopubmedrs13447324
geneviewrs13447324
scholarrs13447324
googlers13447324
pharmgkbrs13447324
gwascentralrs13447324
openSNPrs13447324
23andMers13447324
23andMe allrs13447324
SNP Nexus

SNPshotrs13447324
SNPdbers13447324
MSV3drs13447324
GWAS Ctlgrs13447324
Max Magnitude0
OMIM155541
Desc
Variant0003
Relatedalso
ClinVar
Risk rs13447324(A;A)
Alt rs13447324(A;A)
Reference rs13447324(C;C)
Significance Pathogenic
Disease Obesity Schizophrenia
Variation info
Gene MC4R
CLNDBN Obesity Schizophrenia
Reversed 1
HGVS NC_000018.9:g.58039478G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015394.25, RCV000202583.1,


[PMID 16507] Formaldehyde formation as a metabolite of methoxyflurane.


[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 12646665] Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.


[PMID 12851297] Molecular genetics of human obesity-associated MC4R mutations.


[PMID 12970296] Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.