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rs4684677

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common on affy axiom data
Make rs4684677(A;A)
Make rs4684677(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10286769
GeneGHRL, GHRLOS
is asnp
is mentioned by
dbSNPrs4684677
ebirs4684677
HLIrs4684677
Exacrs4684677
Varsomers4684677
Maprs4684677
PheGenIrs4684677
hapmaprs4684677
1000 genomesrs4684677
hgdprs4684677
ensemblrs4684677
gopubmedrs4684677
geneviewrs4684677
scholarrs4684677
googlers4684677
pharmgkbrs4684677
gwascentralrs4684677
openSNPrs4684677
23andMers4684677
23andMe allrs4684677
SNP Nexus

SNPshotrs4684677
SNPdbers4684677
MSV3drs4684677
GWAS Ctlgrs4684677
Merged fromRs17847133
GMAF0.0652
Max Magnitude0
? (A;A) (A;T) (T;T) 28
OMIM605353
DescGHRELIN; GHRL
Variant
Relatedalso


[PMID 20010782] Influence of ghrelin gene polymorphisms on hypertension and atherosclerotic disease

OMIM605353
Desc
Variant0003
Relatedalso


[PMID 22005651] Genetic association between ghrelin polymorphisms and Alzheimer's disease in a Japanese population


ClinVar
Risk rs4684677(A;A)
Alt rs4684677(A;A)
Reference rs4684677(T;T)
Significance Other
Disease Obesity
Variation info
Gene GHRLOS GHRL
CLNDBN Obesity
Reversed 0
HGVS NC_000003.11:g.10328453T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023422.2,



[PMID 16204371] Variants in the ghrelin gene are associated with metabolic syndrome in the Old Order Amish.


[PMID 17389697] Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes.


[PMID 18239581] Lack of association of ghrelin precursor gene variants and percentage body fat or serum lipid profiles.


[PMID 19041386OA-icon.png] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.


[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 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.


GET Evidence
GHRL-Q90L
aa_change Gln90Leu
aa_change_short Q90L
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0390625
summary Initially thought to be associated with obesity, but follow-up comparisons found no enrichment in combined data. Polyphen 2 predicts a damaging effect.



[PMID 23251435OA-icon.png] A Natural Variant of Obestatin, Q90L, Inhibits Ghrelin's Action on Food Intake and GH Secretion and Targets NPY and GHRH Neurons in Mice


[PMID 23084284] A possible association between panic disorder and a polymorphism in the preproghrelingene.


[PMID 25868387] The association between rs4684677 T/A polymorphism in preproghrelin gene and predisposition to autoimmune thyroid diseases in children


[PMID 26059200] Genetic variation of the growth hormone secretagogue receptor gene is associated with alcohol use disorders identification test scores and smoking