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rs730880282

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880282(C;C)
Make rs730880282(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position42713519
GeneGHR
is asnp
is mentioned by
dbSNPrs730880282
ebirs730880282
HLIrs730880282
Exacrs730880282
Varsomers730880282
Maprs730880282
PheGenIrs730880282
hapmaprs730880282
1000 genomesrs730880282
hgdprs730880282
ensemblrs730880282
gopubmedrs730880282
geneviewrs730880282
scholarrs730880282
googlers730880282
pharmgkbrs730880282
gwascentralrs730880282
openSNPrs730880282
23andMers730880282
23andMe allrs730880282
SNP Nexus

SNPshotrs730880282
SNPdbers730880282
MSV3drs730880282
GWAS Ctlgrs730880282
Max Magnitude0
ClinVar
Risk rs730880282(C;C)
Alt rs730880282(C;C)
Reference rs730880282(G;G)
Significance Pathogenic
Disease Laron syndrome with elevated serum GH-binding protein
Variation info
Gene GHR
CLNDBN Laron syndrome with elevated serum GH-binding protein
Reversed 0
HGVS NC_000005.9:g.42713621G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009176.6,