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rs863223309

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863223309(A;T)
Make rs863223309(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position63918138
GeneGH1
is asnp
is mentioned by
dbSNPrs863223309
ebirs863223309
HLIrs863223309
Exacrs863223309
Varsomers863223309
Maprs863223309
PheGenIrs863223309
hapmaprs863223309
1000 genomesrs863223309
hgdprs863223309
ensemblrs863223309
gopubmedrs863223309
geneviewrs863223309
scholarrs863223309
googlers863223309
pharmgkbrs863223309
gwascentralrs863223309
openSNPrs863223309
23andMers863223309
23andMe allrs863223309
SNP Nexus

SNPshotrs863223309
SNPdbers863223309
MSV3drs863223309
GWAS Ctlgrs863223309
Max Magnitude0
ClinVar
Risk rs863223309(T;T)
Alt rs863223309(T;T)
Reference rs863223309(A;A)
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.61995498T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017349.30,