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rs121909363

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909363(C;T)
Make rs121909363(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position42711291
GeneGHR
is asnp
is mentioned by
dbSNPrs121909363
ebirs121909363
HLIrs121909363
Exacrs121909363
Varsomers121909363
Maprs121909363
PheGenIrs121909363
hapmaprs121909363
1000 genomesrs121909363
hgdprs121909363
ensemblrs121909363
gopubmedrs121909363
geneviewrs121909363
scholarrs121909363
googlers121909363
pharmgkbrs121909363
gwascentralrs121909363
openSNPrs121909363
23andMers121909363
23andMe allrs121909363
SNP Nexus

SNPshotrs121909363
SNPdbers121909363
MSV3drs121909363
GWAS Ctlgrs121909363
Max Magnitude0
OMIM600946
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121909363(T;T)
Alt rs121909363(T;T)
Reference rs121909363(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.42711393C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009171.3,