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rs121909371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909371(A;A)
Make rs121909371(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position42694953
GeneGHR
is asnp
is mentioned by
dbSNPrs121909371
ebirs121909371
HLIrs121909371
Exacrs121909371
Varsomers121909371
Maprs121909371
PheGenIrs121909371
hapmaprs121909371
1000 genomesrs121909371
hgdprs121909371
ensemblrs121909371
gopubmedrs121909371
geneviewrs121909371
scholarrs121909371
googlers121909371
pharmgkbrs121909371
gwascentralrs121909371
openSNPrs121909371
23andMers121909371
23andMe allrs121909371
SNP Nexus

SNPshotrs121909371
SNPdbers121909371
MSV3drs121909371
GWAS Ctlgrs121909371
Max Magnitude0
OMIM600946
Desc
Variant0029
Relatedalso
ClinVar
Risk rs121909371(A;A)
Alt rs121909371(A;A)
Reference rs121909371(C;C)
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.42695055C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009191.3,