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rs121909360

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909360(A;G)
Make rs121909360(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position42699978
GeneGHR
is asnp
is mentioned by
dbSNPrs121909360
ebirs121909360
HLIrs121909360
Exacrs121909360
Varsomers121909360
Maprs121909360
PheGenIrs121909360
hapmaprs121909360
1000 genomesrs121909360
hgdprs121909360
ensemblrs121909360
gopubmedrs121909360
geneviewrs121909360
scholarrs121909360
googlers121909360
pharmgkbrs121909360
gwascentralrs121909360
openSNPrs121909360
23andMers121909360
23andMe allrs121909360
SNP Nexus

SNPshotrs121909360
SNPdbers121909360
MSV3drs121909360
GWAS Ctlgrs121909360
Max Magnitude0
OMIM600946
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909360(G;G)
Alt rs121909360(G;G)
Reference rs121909360(A;A)
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.42700080A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009167.5,