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rs137853592

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853592(G;G)
Make rs137853592(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position30756396
GenePHKG2
is asnp
is mentioned by
dbSNPrs137853592
ebirs137853592
HLIrs137853592
Exacrs137853592
Varsomers137853592
Maprs137853592
PheGenIrs137853592
hapmaprs137853592
1000 genomesrs137853592
hgdprs137853592
ensemblrs137853592
gopubmedrs137853592
geneviewrs137853592
scholarrs137853592
googlers137853592
pharmgkbrs137853592
gwascentralrs137853592
openSNPrs137853592
23andMers137853592
23andMe allrs137853592
SNP Nexus

SNPshotrs137853592
SNPdbers137853592
MSV3drs137853592
GWAS Ctlgrs137853592
Max Magnitude0
OMIM172471
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137853592(G;G)
Alt rs137853592(G;G)
Reference rs137853592(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.30767717T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014601.21,