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rs797044450

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797044450(C;C)
Make rs797044450(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position63918011
GeneGH1
is asnp
is mentioned by
dbSNPrs797044450
ebirs797044450
HLIrs797044450
Exacrs797044450
Varsomers797044450
Maprs797044450
PheGenIrs797044450
hapmaprs797044450
1000 genomesrs797044450
hgdprs797044450
ensemblrs797044450
gopubmedrs797044450
geneviewrs797044450
scholarrs797044450
googlers797044450
pharmgkbrs797044450
gwascentralrs797044450
openSNPrs797044450
23andMers797044450
23andMe allrs797044450
SNP Nexus

SNPshotrs797044450
SNPdbers797044450
MSV3drs797044450
GWAS Ctlgrs797044450
Max Magnitude0
ClinVar
Risk rs797044450(C;C)
Alt rs797044450(C;C)
Reference rs797044450(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.61995371A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017338.25,