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rs730880308

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880308(C;C)
Make rs730880308(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position42718051
GeneGHR
is asnp
is mentioned by
dbSNPrs730880308
ebirs730880308
HLIrs730880308
Exacrs730880308
Varsomers730880308
Maprs730880308
PheGenIrs730880308
hapmaprs730880308
1000 genomesrs730880308
hgdprs730880308
ensemblrs730880308
gopubmedrs730880308
geneviewrs730880308
scholarrs730880308
googlers730880308
pharmgkbrs730880308
gwascentralrs730880308
openSNPrs730880308
23andMers730880308
23andMe allrs730880308
SNP Nexus

SNPshotrs730880308
SNPdbers730880308
MSV3drs730880308
GWAS Ctlgrs730880308
Max Magnitude0
ClinVar
Risk rs730880308(C;C)
Alt rs730880308(C;C)
Reference rs730880308(G;G)
Significance Pathogenic
Disease Short stature
Variation info
Gene GHR
CLNDBN Short stature, idiopathic, autosomal
Reversed 0
HGVS NC_000005.9:g.42718153G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009178.4,