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rs137853223

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853223(A;A)
Make rs137853223(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63917337
GeneGH1
is asnp
is mentioned by
dbSNPrs137853223
ebirs137853223
HLIrs137853223
Exacrs137853223
Varsomers137853223
Maprs137853223
PheGenIrs137853223
hapmaprs137853223
1000 genomesrs137853223
hgdprs137853223
ensemblrs137853223
gopubmedrs137853223
geneviewrs137853223
scholarrs137853223
googlers137853223
pharmgkbrs137853223
gwascentralrs137853223
openSNPrs137853223
23andMers137853223
23andMe allrs137853223
SNP Nexus

SNPshotrs137853223
SNPdbers137853223
MSV3drs137853223
GWAS Ctlgrs137853223
Max Magnitude0
OMIM139250
Desc
Variant0023
Relatedalso
ClinVar
Risk rs137853223(A;A)
Alt rs137853223(A;A)
Reference rs137853223(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.61994697C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017353.26,