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rs121917883

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917883(A;A)
Make rs121917883(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position172447803
GeneGHSR
is asnp
is mentioned by
dbSNPrs121917883
dbSNP (classic)rs121917883
ClinGenrs121917883
ebirs121917883
HLIrs121917883
Exacrs121917883
Gnomadrs121917883
Varsomers121917883
LitVarrs121917883
Maprs121917883
PheGenIrs121917883
Biobankrs121917883
1000 genomesrs121917883
hgdprs121917883
ensemblrs121917883
geneviewrs121917883
scholarrs121917883
googlers121917883
pharmgkbrs121917883
gwascentralrs121917883
openSNPrs121917883
23andMers121917883
SNPshotrs121917883
SNPdbers121917883
MSV3drs121917883
GWAS Ctlgrs121917883
Max Magnitude0
ClinVar
Risk rs121917883(A;A) rs121917883(T;T)
Alt rs121917883(A;A) rs121917883(T;T)
Reference Rs121917883(C;C)
Significance Pathogenic
Disease Short stature
Variation info
Gene GHSR
CLNDBN Short stature, idiopathic, autosomal
Reversed 1
HGVS NC_000003.11:g.172165593G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008071.3,