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rs121909373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909373(G;G)
Make rs121909373(G;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position42699888
GeneGHR
is asnp
is mentioned by
dbSNPrs121909373
ebirs121909373
HLIrs121909373
Exacrs121909373
Varsomers121909373
Maprs121909373
PheGenIrs121909373
hapmaprs121909373
1000 genomesrs121909373
hgdprs121909373
ensemblrs121909373
gopubmedrs121909373
geneviewrs121909373
scholarrs121909373
googlers121909373
pharmgkbrs121909373
gwascentralrs121909373
openSNPrs121909373
23andMers121909373
23andMe allrs121909373
SNP Nexus

SNPshotrs121909373
SNPdbers121909373
MSV3drs121909373
GWAS Ctlgrs121909373
Max Magnitude0
OMIM600946
Desc
Variant0033
Relatedalso
ClinVar
Risk rs121909373(C,G;C,G)
Alt rs121909373(C,G;C,G)
Reference rs121909373(T;T)
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.42699990T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009195.2,