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rs730880281

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880281(G;T)
Make rs730880281(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position42711206
GeneGHR
is asnp
is mentioned by
dbSNPrs730880281
ebirs730880281
HLIrs730880281
Exacrs730880281
Varsomers730880281
Maprs730880281
PheGenIrs730880281
hapmaprs730880281
1000 genomesrs730880281
hgdprs730880281
ensemblrs730880281
gopubmedrs730880281
geneviewrs730880281
scholarrs730880281
googlers730880281
pharmgkbrs730880281
gwascentralrs730880281
openSNPrs730880281
23andMers730880281
23andMe allrs730880281
SNP Nexus

SNPshotrs730880281
SNPdbers730880281
MSV3drs730880281
GWAS Ctlgrs730880281
Max Magnitude0
ClinVar
Risk rs730880281(T;T)
Alt rs730880281(T;T)
Reference rs730880281(G;G)
Significance Pathogenic
Disease Laron-type isolated somatotropin defect
Variation info
Gene GHR
CLNDBN Laron-type isolated somatotropin defect
Reversed 0
HGVS NC_000005.9:g.42711308G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009174.3,