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rs137853588

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853588(A;A)
Make rs137853588(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position30756191
GenePHKG2
is asnp
is mentioned by
dbSNPrs137853588
dbSNP (classic)rs137853588
ClinGenrs137853588
ebirs137853588
HLIrs137853588
Exacrs137853588
Gnomadrs137853588
Varsomers137853588
LitVarrs137853588
Maprs137853588
PheGenIrs137853588
Biobankrs137853588
1000 genomesrs137853588
hgdprs137853588
ensemblrs137853588
geneviewrs137853588
scholarrs137853588
googlers137853588
pharmgkbrs137853588
gwascentralrs137853588
openSNPrs137853588
23andMers137853588
SNPshotrs137853588
SNPdbers137853588
MSV3drs137853588
GWAS Ctlgrs137853588
Max Magnitude0
OMIM172471
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853588(A;A)
Alt rs137853588(A;A)
Reference Rs137853588(G;G)
Significance Pathogenic
Disease Glycogen storage disease IXc
Variation info
Gene PHKG2
CLNDBN Glycogen storage disease IXc
Reversed 0
HGVS NC_000016.9:g.30767512G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014596.26,