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rs121909372

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909372(C;C)
Make rs121909372(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position42694985
GeneGHR
is asnp
is mentioned by
dbSNPrs121909372
ebirs121909372
HLIrs121909372
Exacrs121909372
Varsomers121909372
Maprs121909372
PheGenIrs121909372
hapmaprs121909372
1000 genomesrs121909372
hgdprs121909372
ensemblrs121909372
gopubmedrs121909372
geneviewrs121909372
scholarrs121909372
googlers121909372
pharmgkbrs121909372
gwascentralrs121909372
openSNPrs121909372
23andMers121909372
23andMe allrs121909372
SNP Nexus

SNPshotrs121909372
SNPdbers121909372
MSV3drs121909372
GWAS Ctlgrs121909372
Max Magnitude0
OMIM600946
Desc
Variant0032
Relatedalso
ClinVar
Risk rs121909372(C;C)
Alt rs121909372(C;C)
Reference rs121909372(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.42695087G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009194.3,