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rs137853219

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853219(A;A)
Make rs137853219(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63918458
GeneGH1
is asnp
is mentioned by
dbSNPrs137853219
dbSNP (classic)rs137853219
ClinGenrs137853219
ebirs137853219
HLIrs137853219
Exacrs137853219
Gnomadrs137853219
Varsomers137853219
LitVarrs137853219
Maprs137853219
PheGenIrs137853219
Biobankrs137853219
1000 genomesrs137853219
hgdprs137853219
ensemblrs137853219
geneviewrs137853219
scholarrs137853219
googlers137853219
pharmgkbrs137853219
gwascentralrs137853219
openSNPrs137853219
23andMers137853219
SNPshotrs137853219
SNPdbers137853219
MSV3drs137853219
GWAS Ctlgrs137853219
Max Magnitude0
OMIM139250
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853219(A;A)
Alt rs137853219(A;A)
Reference Rs137853219(G;G)
Significance Pathogenic
Disease Ateleiotic dwarfism
Variation info
Gene GH1
CLNDBN Ateleiotic dwarfism
Reversed 1
HGVS NC_000017.10:g.61995818C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017333.24,