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rs863223308

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863223308(C;C)
Make rs863223308(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position63917755
GeneGH1
is asnp
is mentioned by
dbSNPrs863223308
ebirs863223308
HLIrs863223308
Exacrs863223308
Varsomers863223308
Maprs863223308
PheGenIrs863223308
hapmaprs863223308
1000 genomesrs863223308
hgdprs863223308
ensemblrs863223308
gopubmedrs863223308
geneviewrs863223308
scholarrs863223308
googlers863223308
pharmgkbrs863223308
gwascentralrs863223308
openSNPrs863223308
23andMers863223308
23andMe allrs863223308
SNP Nexus

SNPshotrs863223308
SNPdbers863223308
MSV3drs863223308
GWAS Ctlgrs863223308
Max Magnitude0
ClinVar
Risk rs863223308(C;C)
Alt rs863223308(C;C)
Reference rs863223308(G;G)
Significance Pathogenic
Disease Isolated growth hormone deficiency type 1B
Variation info
Gene GH1
CLNDBN Isolated growth hormone deficiency type 1B
Reversed 1
HGVS NC_000017.10:g.61995115C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017346.29,