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rs193922687

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs193922687(-;-)
Make rs193922687(-;TG)
Make rs193922687(TG;TG)
ReferenceGRCh38 38.1/141
Chromosome18
Position60371513
GeneMC4R
is asnp
is mentioned by
dbSNPrs193922687
ebirs193922687
HLIrs193922687
Exacrs193922687
Varsomers193922687
Maprs193922687
PheGenIrs193922687
hapmaprs193922687
1000 genomesrs193922687
hgdprs193922687
ensemblrs193922687
gopubmedrs193922687
geneviewrs193922687
scholarrs193922687
googlers193922687
pharmgkbrs193922687
gwascentralrs193922687
openSNPrs193922687
23andMers193922687
23andMe allrs193922687
SNP Nexus

SNPshotrs193922687
SNPdbers193922687
MSV3drs193922687
GWAS Ctlgrs193922687
Max Magnitude0
ClinVar
Risk rs193922687(TG;TG)
Alt rs193922687(TG;TG)
Reference rs193922687(;)
Significance Pathogenic
Disease Obesity
Variation info
Gene MC4R
CLNDBN Obesity
Reversed 1
HGVS NC_000018.9:g.58038747_58038748dupCA
CLNSRC ClinVar LabCorp
CLNACC RCV000030159.1,


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


[PMID 17229951OA-icon.png] Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.


[PMID 18801902OA-icon.png] Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.