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rs121909361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909361(A;A)
Make rs121909361(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position42688937
GeneGHR
is asnp
is mentioned by
dbSNPrs121909361
dbSNP (classic)rs121909361
ClinGenrs121909361
ebirs121909361
HLIrs121909361
Exacrs121909361
Gnomadrs121909361
Varsomers121909361
LitVarrs121909361
Maprs121909361
PheGenIrs121909361
Biobankrs121909361
1000 genomesrs121909361
hgdprs121909361
ensemblrs121909361
geneviewrs121909361
scholarrs121909361
googlers121909361
pharmgkbrs121909361
gwascentralrs121909361
openSNPrs121909361
23andMers121909361
SNPshotrs121909361
SNPdbers121909361
MSV3drs121909361
GWAS Ctlgrs121909361
Max Magnitude0
OMIM600946
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909361(A;A)
Alt rs121909361(A;A)
Reference Rs121909361(G;G)
Significance Pathogenic
Disease Short stature
Variation info
Gene GHR
CLNDBN Short stature, idiopathic, autosomal
Reversed 0
HGVS NC_000005.9:g.42689039G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009168.4,