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rs121909359

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909359(A;A)
Make rs121909359(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position42688921
GeneGHR
is asnp
is mentioned by
dbSNPrs121909359
ebirs121909359
HLIrs121909359
Exacrs121909359
Varsomers121909359
Maprs121909359
PheGenIrs121909359
hapmaprs121909359
1000 genomesrs121909359
hgdprs121909359
ensemblrs121909359
gopubmedrs121909359
geneviewrs121909359
scholarrs121909359
googlers121909359
pharmgkbrs121909359
gwascentralrs121909359
openSNPrs121909359
23andMers121909359
23andMe allrs121909359
SNP Nexus

SNPshotrs121909359
SNPdbers121909359
MSV3drs121909359
GWAS Ctlgrs121909359
Max Magnitude0
OMIM600946
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909359(A;A)
Alt rs121909359(A;A)
Reference rs121909359(C;C)
Significance Pathogenic
Disease Laron-type isolated somatotropin defect
Variation info
Gene GHR
CLNDBN Laron-type isolated somatotropin defect
Reversed 0
HGVS NC_000005.9:g.42689023C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009166.4,