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rs121909365

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909365(A;A)
Make rs121909365(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position42699830
GeneGHR
is asnp
is mentioned by
dbSNPrs121909365
ebirs121909365
HLIrs121909365
Exacrs121909365
Varsomers121909365
Maprs121909365
PheGenIrs121909365
hapmaprs121909365
1000 genomesrs121909365
hgdprs121909365
ensemblrs121909365
gopubmedrs121909365
geneviewrs121909365
scholarrs121909365
googlers121909365
pharmgkbrs121909365
gwascentralrs121909365
openSNPrs121909365
23andMers121909365
23andMe allrs121909365
SNP Nexus

SNPshotrs121909365
SNPdbers121909365
MSV3drs121909365
GWAS Ctlgrs121909365
Max Magnitude0
OMIM600946
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121909365(A;A)
Alt rs121909365(A;A)
Reference rs121909365(C;C)
Significance Pathogenic
Disease Laron syndrome with undetectable serum GH-binding protein
Variation info
Gene GHR
CLNDBN Laron syndrome with undetectable serum GH-binding protein
Reversed 0
HGVS NC_000005.9:g.42699932C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009183.2,