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rs137853589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853589(A;A)
Make rs137853589(A;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position30751594
GenePHKG2
is asnp
is mentioned by
dbSNPrs137853589
dbSNP (classic)rs137853589
ClinGenrs137853589
ebirs137853589
HLIrs137853589
Exacrs137853589
Gnomadrs137853589
Varsomers137853589
LitVarrs137853589
Maprs137853589
PheGenIrs137853589
Biobankrs137853589
1000 genomesrs137853589
hgdprs137853589
ensemblrs137853589
geneviewrs137853589
scholarrs137853589
googlers137853589
pharmgkbrs137853589
gwascentralrs137853589
openSNPrs137853589
23andMers137853589
SNPshotrs137853589
SNPdbers137853589
MSV3drs137853589
GWAS Ctlgrs137853589
Max Magnitude0
OMIM172471
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853589(A;A)
Alt rs137853589(A;A)
Reference Rs137853589(T;T)
Significance Pathogenic
Disease Glycogen storage disease IXc
Variation info
Gene PHKG2
CLNDBN Glycogen storage disease IXc
Reversed 0
HGVS NC_000016.9:g.30762915T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014597.21,