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rs121909370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909370(A;A)
Make rs121909370(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position42629069
GeneGHR
is asnp
is mentioned by
dbSNPrs121909370
ebirs121909370
HLIrs121909370
Exacrs121909370
Varsomers121909370
Maprs121909370
PheGenIrs121909370
hapmaprs121909370
1000 genomesrs121909370
hgdprs121909370
ensemblrs121909370
gopubmedrs121909370
geneviewrs121909370
scholarrs121909370
googlers121909370
pharmgkbrs121909370
gwascentralrs121909370
openSNPrs121909370
23andMers121909370
23andMe allrs121909370
SNP Nexus

SNPshotrs121909370
SNPdbers121909370
MSV3drs121909370
GWAS Ctlgrs121909370
Max Magnitude0
OMIM600946
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121909370(A;A)
Alt rs121909370(A;A)
Reference rs121909370(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.42629171G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009189.2,