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rs797044449

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044449(C;C)
Make rs797044449(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position63917759
GeneGH1
is asnp
is mentioned by
dbSNPrs797044449
ebirs797044449
HLIrs797044449
Exacrs797044449
Varsomers797044449
Maprs797044449
PheGenIrs797044449
hapmaprs797044449
1000 genomesrs797044449
hgdprs797044449
ensemblrs797044449
gopubmedrs797044449
geneviewrs797044449
scholarrs797044449
googlers797044449
pharmgkbrs797044449
gwascentralrs797044449
openSNPrs797044449
23andMers797044449
23andMe allrs797044449
SNP Nexus

SNPshotrs797044449
SNPdbers797044449
MSV3drs797044449
GWAS Ctlgrs797044449
Max Magnitude0
ClinVar
Risk rs797044449(C,T;C,T)
Alt rs797044449(C,T;C,T)
Reference rs797044449(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.61995119C>A; NC_000017.10:g.61995119C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017337.25, RCV000017336.29,