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rs121909369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909369(G;G)
Make rs121909369(G;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position42699902
GeneGHR
is asnp
is mentioned by
dbSNPrs121909369
ebirs121909369
HLIrs121909369
Exacrs121909369
Varsomers121909369
Maprs121909369
PheGenIrs121909369
hapmaprs121909369
1000 genomesrs121909369
hgdprs121909369
ensemblrs121909369
gopubmedrs121909369
geneviewrs121909369
scholarrs121909369
googlers121909369
pharmgkbrs121909369
gwascentralrs121909369
openSNPrs121909369
23andMers121909369
23andMe allrs121909369
SNP Nexus

SNPshotrs121909369
SNPdbers121909369
MSV3drs121909369
GWAS Ctlgrs121909369
Max Magnitude0
OMIM600946
Desc
Variant0024
Relatedalso
ClinVar
Risk rs121909369(G;G)
Alt rs121909369(G;G)
Reference rs121909369(T;T)
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.42700004T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009180.3,