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rs863223310

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863223310(C;C)
Make rs863223310(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position63918015
GeneGH1
is asnp
is mentioned by
dbSNPrs863223310
ebirs863223310
HLIrs863223310
Exacrs863223310
Varsomers863223310
Maprs863223310
PheGenIrs863223310
hapmaprs863223310
1000 genomesrs863223310
hgdprs863223310
ensemblrs863223310
gopubmedrs863223310
geneviewrs863223310
scholarrs863223310
googlers863223310
pharmgkbrs863223310
gwascentralrs863223310
openSNPrs863223310
23andMers863223310
23andMe allrs863223310
SNP Nexus

SNPshotrs863223310
SNPdbers863223310
MSV3drs863223310
GWAS Ctlgrs863223310
Max Magnitude0
ClinVar
Risk rs863223310(C;C)
Alt rs863223310(C;C)
Reference rs863223310(T;T)
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.61995375A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017350.25,