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rs121909367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909367(C;C)
Make rs121909367(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position42699896
GeneGHR
is asnp
is mentioned by
dbSNPrs121909367
ebirs121909367
HLIrs121909367
Exacrs121909367
Varsomers121909367
Maprs121909367
PheGenIrs121909367
hapmaprs121909367
1000 genomesrs121909367
hgdprs121909367
ensemblrs121909367
gopubmedrs121909367
geneviewrs121909367
scholarrs121909367
googlers121909367
pharmgkbrs121909367
gwascentralrs121909367
openSNPrs121909367
23andMers121909367
23andMe allrs121909367
SNP Nexus

SNPshotrs121909367
SNPdbers121909367
MSV3drs121909367
GWAS Ctlgrs121909367
Max Magnitude0
OMIM600946
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121909367(C;C)
Alt rs121909367(C;C)
Reference rs121909367(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.42699998T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009186.3,