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rs45588036

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs45588036(C;C)
Make rs45588036(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position42711314
GeneGHR
is asnp
is mentioned by
dbSNPrs45588036
dbSNP (classic)rs45588036
ClinGenrs45588036
ebirs45588036
HLIrs45588036
Exacrs45588036
Gnomadrs45588036
Varsomers45588036
LitVarrs45588036
Maprs45588036
PheGenIrs45588036
Biobankrs45588036
1000 genomesrs45588036
hgdprs45588036
ensemblrs45588036
geneviewrs45588036
scholarrs45588036
googlers45588036
pharmgkbrs45588036
gwascentralrs45588036
openSNPrs45588036
23andMers45588036
SNPshotrs45588036
SNPdbers45588036
MSV3drs45588036
GWAS Ctlgrs45588036
Max Magnitude0
OMIM600946
Desc
Variant0008
Relatedalso
ClinVar
Risk rs45588036(C;C)
Alt rs45588036(C;C)
Reference Rs45588036(G;G)
Significance Pathogenic
Disease Short stature
Variation info
Gene GHR
CLNDBN Short stature, idiopathic, autosomal
Reversed 0
HGVS NC_000005.9:g.42711416G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009170.3,