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rs137852548

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852548(A;A)
Make rs137852548(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position72667425
GenePHKA1
is asnp
is mentioned by
dbSNPrs137852548
ebirs137852548
HLIrs137852548
Exacrs137852548
Varsomers137852548
Maprs137852548
PheGenIrs137852548
hapmaprs137852548
1000 genomesrs137852548
hgdprs137852548
ensemblrs137852548
gopubmedrs137852548
geneviewrs137852548
scholarrs137852548
googlers137852548
pharmgkbrs137852548
gwascentralrs137852548
openSNPrs137852548
23andMers137852548
23andMe allrs137852548
SNP Nexus

SNPshotrs137852548
SNPdbers137852548
MSV3drs137852548
GWAS Ctlgrs137852548
Max Magnitude0
OMIM311870
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852548(A;A)
Alt rs137852548(A;A)
Reference rs137852548(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.71887275C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010605.3,