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rs121909357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909357(C;C)
Make rs121909357(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position42694991
GeneGHR
is asnp
is mentioned by
dbSNPrs121909357
dbSNP (old)rs121909357
ClinGenrs121909357
ebirs121909357
HLIrs121909357
Exacrs121909357
Gnomadrs121909357
Varsomers121909357
Maprs121909357
PheGenIrs121909357
Biobankrs121909357
1000 genomesrs121909357
hgdprs121909357
ensemblrs121909357
gopubmedrs121909357
geneviewrs121909357
scholarrs121909357
googlers121909357
pharmgkbrs121909357
gwascentralrs121909357
openSNPrs121909357
23andMers121909357
23andMe allrs121909357
SNP Nexus

SNPshotrs121909357
SNPdbers121909357
MSV3drs121909357
GWAS Ctlgrs121909357
Max Magnitude0
OMIM600946
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909357(C;C)
Alt rs121909357(C;C)
Reference Rs121909357(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.42695093T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009164.3,