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rs121909366

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909366(C;C)
Make rs121909366(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position42699892
GeneGHR
is asnp
is mentioned by
dbSNPrs121909366
ebirs121909366
HLIrs121909366
Exacrs121909366
Varsomers121909366
Maprs121909366
PheGenIrs121909366
hapmaprs121909366
1000 genomesrs121909366
hgdprs121909366
ensemblrs121909366
gopubmedrs121909366
geneviewrs121909366
scholarrs121909366
googlers121909366
pharmgkbrs121909366
gwascentralrs121909366
openSNPrs121909366
23andMers121909366
23andMe allrs121909366
SNP Nexus

SNPshotrs121909366
SNPdbers121909366
MSV3drs121909366
GWAS Ctlgrs121909366
Max Magnitude0
OMIM600946
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121909366(C;C)
Alt rs121909366(C;C)
Reference rs121909366(G;G)
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.42699994G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009185.2,