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rs121909364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909364(G;T)
Make rs121909364(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position42711312
GeneGHR
is asnp
is mentioned by
dbSNPrs121909364
ebirs121909364
HLIrs121909364
Exacrs121909364
Varsomers121909364
Maprs121909364
PheGenIrs121909364
hapmaprs121909364
1000 genomesrs121909364
hgdprs121909364
ensemblrs121909364
gopubmedrs121909364
geneviewrs121909364
scholarrs121909364
googlers121909364
pharmgkbrs121909364
gwascentralrs121909364
openSNPrs121909364
23andMers121909364
23andMe allrs121909364
SNP Nexus

SNPshotrs121909364
SNPdbers121909364
MSV3drs121909364
GWAS Ctlgrs121909364
Max Magnitude0
OMIM600946
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121909364(A,T;A,T)
Alt rs121909364(A,T;A,T)
Reference rs121909364(G;G)
Significance Pathogenic
Disease Laron syndrome with undetectable serum GH-binding protein
Variation info
Gene GHR
CLNDBN Laron syndrome with undetectable serum GH-binding protein
Reversed 0
HGVS NC_000005.9:g.42711414G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009179.2,