Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909358

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909358(C;T)
Make rs121909358(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position42688934
GeneGHR
is asnp
is mentioned by
dbSNPrs121909358
ebirs121909358
HLIrs121909358
Exacrs121909358
Varsomers121909358
Maprs121909358
PheGenIrs121909358
hapmaprs121909358
1000 genomesrs121909358
hgdprs121909358
ensemblrs121909358
gopubmedrs121909358
geneviewrs121909358
scholarrs121909358
googlers121909358
pharmgkbrs121909358
gwascentralrs121909358
openSNPrs121909358
23andMers121909358
23andMe allrs121909358
SNP Nexus

SNPshotrs121909358
SNPdbers121909358
MSV3drs121909358
GWAS Ctlgrs121909358
Max Magnitude0
OMIM600946
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909358(G,T;G,T)
Alt rs121909358(G,T;G,T)
Reference rs121909358(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.42689036C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009165.5,