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rs137853590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853590(C;T)
Make rs137853590(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position30751140
GenePHKG2
is asnp
is mentioned by
dbSNPrs137853590
ebirs137853590
HLIrs137853590
Exacrs137853590
Varsomers137853590
Maprs137853590
PheGenIrs137853590
hapmaprs137853590
1000 genomesrs137853590
hgdprs137853590
ensemblrs137853590
gopubmedrs137853590
geneviewrs137853590
scholarrs137853590
googlers137853590
pharmgkbrs137853590
gwascentralrs137853590
openSNPrs137853590
23andMers137853590
23andMe allrs137853590
SNP Nexus

SNPshotrs137853590
SNPdbers137853590
MSV3drs137853590
GWAS Ctlgrs137853590
Max Magnitude0
OMIM172471
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853590(T;T)
Alt rs137853590(T;T)
Reference rs137853590(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.30762461C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014598.26,