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rs137853591

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853591(C;T)
Make rs137853591(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position30753434
GenePHKG2
is asnp
is mentioned by
dbSNPrs137853591
ebirs137853591
HLIrs137853591
Exacrs137853591
Varsomers137853591
Maprs137853591
PheGenIrs137853591
hapmaprs137853591
1000 genomesrs137853591
hgdprs137853591
ensemblrs137853591
gopubmedrs137853591
geneviewrs137853591
scholarrs137853591
googlers137853591
pharmgkbrs137853591
gwascentralrs137853591
openSNPrs137853591
23andMers137853591
23andMe allrs137853591
SNP Nexus

SNPshotrs137853591
SNPdbers137853591
MSV3drs137853591
GWAS Ctlgrs137853591
Max Magnitude0
OMIM172471
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137853591(T;T)
Alt rs137853591(T;T)
Reference rs137853591(C;C)
Significance Pathogenic
Disease Glycogen storage disease IXc
Variation info
Gene PHKG2
CLNDBN Glycogen storage disease IXc
Reversed 0
HGVS NC_000016.9:g.30764755C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014600.25,