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rs137852546

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852546(G;T)
Make rs137852546(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position72582562
GenePHKA1
is asnp
is mentioned by
dbSNPrs137852546
ebirs137852546
HLIrs137852546
Exacrs137852546
Varsomers137852546
Maprs137852546
PheGenIrs137852546
hapmaprs137852546
1000 genomesrs137852546
hgdprs137852546
ensemblrs137852546
gopubmedrs137852546
geneviewrs137852546
scholarrs137852546
googlers137852546
pharmgkbrs137852546
gwascentralrs137852546
openSNPrs137852546
23andMers137852546
23andMe allrs137852546
SNP Nexus

SNPshotrs137852546
SNPdbers137852546
MSV3drs137852546
GWAS Ctlgrs137852546
Max Magnitude0
OMIM311870
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852546(T;T)
Alt rs137852546(T;T)
Reference rs137852546(G;G)
Significance Pathogenic
Disease Glycogen storage disease IXd
Variation info
Gene PHKA1
CLNDBN Glycogen storage disease IXd
Reversed 1
HGVS NC_000023.10:g.71802412C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010601.3,