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rs121909368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909368(A;C)
Make rs121909368(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position42699899
GeneGHR
is asnp
is mentioned by
dbSNPrs121909368
ebirs121909368
HLIrs121909368
Exacrs121909368
Varsomers121909368
Maprs121909368
PheGenIrs121909368
hapmaprs121909368
1000 genomesrs121909368
hgdprs121909368
ensemblrs121909368
gopubmedrs121909368
geneviewrs121909368
scholarrs121909368
googlers121909368
pharmgkbrs121909368
gwascentralrs121909368
openSNPrs121909368
23andMers121909368
23andMe allrs121909368
SNP Nexus

SNPshotrs121909368
SNPdbers121909368
MSV3drs121909368
GWAS Ctlgrs121909368
Max Magnitude0
OMIM600946
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121909368(C;C)
Alt rs121909368(C;C)
Reference rs121909368(A;A)
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.42700001A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009177.3,