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rs4988496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs4988496(A;A)
Make rs4988496(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position30969071
GeneGHRHR
is asnp
is mentioned by
dbSNPrs4988496
ebirs4988496
HLIrs4988496
Exacrs4988496
Varsomers4988496
Maprs4988496
PheGenIrs4988496
hapmaprs4988496
1000 genomesrs4988496
hgdprs4988496
ensemblrs4988496
gopubmedrs4988496
geneviewrs4988496
scholarrs4988496
googlers4988496
pharmgkbrs4988496
gwascentralrs4988496
openSNPrs4988496
23andMers4988496
23andMe allrs4988496
SNP Nexus

SNPshotrs4988496
SNPdbers4988496
MSV3drs4988496
GWAS Ctlgrs4988496
GMAF0.1162
Max Magnitude0
? (A;A) (A;G) (G;G) 28

[PMID 19487270] A study of relationships between single nucleotide polymorphisms from the growth hormone-insulin-like growth factor axis and bone mass: the Hertfordshire cohort study


ClinVar
Risk rs4988496(A;A)
Alt rs4988496(A;A)
Reference rs4988496(G;G)
Significance Non-pathogenic
Disease Idiopathic growth hormone deficiency not specified
Variation info
Gene GHRHR
CLNDBN Idiopathic growth hormone deficiency not specified
Reversed 0
HGVS NC_000007.13:g.31008686G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029936.1, RCV000177091.1,



[PMID 12414] [Radial nerve lesion caused by lipoma situated in the supinator canal].


[PMID 10944436] A polymorphism in the growth hormone (GH)-releasing hormone (GHRH) receptor gene is associated with elevated response to GHRH by human pituitary somatotrophinomas in vitro.


[PMID 11298081] Absence of mutations in the growth hormone (GH)-releasing hormone receptor gene in GH-secreting pituitary adenomas.


[PMID 11502843] Absence of constitutively activating mutations in the GHRH receptor in GH-producing pituitary tumors.


[PMID 12163232] Growth hormone-releasing hormone and pituitary development, hyperplasia and tumorigenesis.


[PMID 16284391] Pituitary growth hormone and growth hormone-releasing hormone receptor genes and associations with mammographic measures and serum growth hormone.


GET Evidence
GHRHR-A57T
aa_change Ala57Thr
aa_change_short A57T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.130398
summary