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rs696217

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs696217(G;T)
Make rs696217(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10289773
GeneGHRL, GHRLOS
is asnp
is mentioned by
dbSNPrs696217
ebirs696217
HLIrs696217
Exacrs696217
Varsomers696217
Maprs696217
PheGenIrs696217
hapmaprs696217
1000 genomesrs696217
hgdprs696217
ensemblrs696217
gopubmedrs696217
geneviewrs696217
scholarrs696217
googlers696217
pharmgkbrs696217
gwascentralrs696217
openSNPrs696217
23andMers696217
23andMe allrs696217
SNP Nexus

SNPshotrs696217
SNPdbers696217
MSV3drs696217
GWAS Ctlgrs696217
Merged fromRs28939083
GMAF0.09045
Max Magnitude0
? (G;G) (G;T) (T;T) 28
OMIM605353
DescGHRELIN; GHRL
Variant
Relatedalso


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

OMIM605353
Desc
Variant0002
Relatedalso


ClinVar
Risk rs696217(T;T)
Alt rs696217(T;T)
Reference rs696217(G;G)
Significance Other
Disease Obesity Metabolic syndrome
Variation info
Gene GHRLOS GHRL
CLNDBN Obesity, age at onset of Metabolic syndrome, susceptibility to
Reversed 0
HGVS NC_000003.11:g.10331457G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005365.2, RCV000005366.2,



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


[PMID 16921495] Possible role of preproghrelin gene polymorphisms in susceptibility to bulimia nervosa.


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


[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 18249219] Interaction of single nucleotide polymorphisms in ADRB2, ADRB3, TNF, IL6, IGF1R, LIPC, LEPR, and GHRL with physical activity on the risk of type 2 diabetes mellitus and changes in characteristics of the metabolic syndrome: The Finnish Diabetes Prevention Study.


[PMID 18778477OA-icon.png] Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival.


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


[PMID 19077438OA-icon.png] Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.


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


[PMID 20191112OA-icon.png] The Genetics of Anorexia Nervosa: Current Findings and Future Perspectives.


[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-L72M
aa_change Leu72Met
aa_change_short L72M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.046875
summary



[PMID 23257630] Preproghrelin gene polymorphisms in obese Japanese women. Minor homozygotes are light eaters, do not prefer protein or fat, and apparently have a poor appetite.


[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