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rs572169

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs572169(A;A)
Make rs572169(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position172447937
GeneGHSR
is asnp
is mentioned by
dbSNPrs572169
dbSNP (classic)rs572169
ClinGenrs572169
ebirs572169
HLIrs572169
Exacrs572169
Gnomadrs572169
Varsomers572169
LitVarrs572169
Maprs572169
PheGenIrs572169
Biobankrs572169
1000 genomesrs572169
hgdprs572169
ensemblrs572169
geneviewrs572169
scholarrs572169
googlers572169
pharmgkbrs572169
gwascentralrs572169
openSNPrs572169
23andMers572169
SNPshotrs572169
SNPdbers572169
MSV3drs572169
GWAS Ctlgrs572169
GMAF0.2718
Max Magnitude0
? (A;A) (A;G) (G;G) 28


GWAS snp
PMID [PMID 20881960OA-icon.png]
Trait Height
Title Hundreds of variants clustered in genomic loci and biological pathways affect human height
Risk Allele T
P-val 3E-18
Odds Ratio 0.03 [NR] unit increase

[PMID 18647811OA-icon.png] Ghrelin receptor gene polymorphisms and body size in children and adults.

[PMID 19165163] Association studies on ghrelin and ghrelin receptor gene polymorphisms with obesity.

[PMID 19593725OA-icon.png] Association of maternally inherited GNAS alleles with African-American male birth weight.

[PMID 20404923OA-icon.png] Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity.

[PMID 20586762] Genetic variation of the ghrelin signaling system in females with severe alcohol dependence.

[PMID 21448464OA-icon.png] The ghrelin signalling system is involved in the consumption of sweets.

[PMID 22406557OA-icon.png] Human longevity and variation in GH/IGF-1/insulin signaling, DNA damage signaling and repair and pro/antioxidant pathway genes: cross sectional and longitudinal studies.

[PMID 22457237] GH secretagogue receptor gene polymorphisms are associated with stature throughout childhood.

GWAS snp
PMID [PMID 23563607OA-icon.png]
Trait Height
Title Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Risk Allele T
P-val 1E-12
Odds Ratio 1.17 [NR]


ClinVar
Risk rs572169(A;A)
Alt rs572169(A;A)
Reference Rs572169(G;G)
Significance Non-pathogenic
Disease not specified Short stature
Variation info
Gene GHSR
CLNDBN not specified Short stature, idiopathic, autosomal
Reversed 1
HGVS NC_000003.11:g.172165727C>T
CLNSRC
CLNACC RCV000249477.1, RCV000347022.1,