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rs863223307

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863223307(A;A)
Make rs863223307(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position63918012
GeneGH1
is asnp
is mentioned by
dbSNPrs863223307
ebirs863223307
HLIrs863223307
Exacrs863223307
Varsomers863223307
Maprs863223307
PheGenIrs863223307
hapmaprs863223307
1000 genomesrs863223307
hgdprs863223307
ensemblrs863223307
gopubmedrs863223307
geneviewrs863223307
scholarrs863223307
googlers863223307
pharmgkbrs863223307
gwascentralrs863223307
openSNPrs863223307
23andMers863223307
23andMe allrs863223307
SNP Nexus

SNPshotrs863223307
SNPdbers863223307
MSV3drs863223307
GWAS Ctlgrs863223307
Max Magnitude0
ClinVar
Risk rs863223307(A;A)
Alt rs863223307(A;A)
Reference rs863223307(G;G)
Significance Pathogenic
Disease Autosomal dominant isolated somatotropin deficiency
Variation info
Gene GH1
CLNDBN Autosomal dominant isolated somatotropin deficiency
Reversed 1
HGVS NC_000017.10:g.61995372C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017345.29,