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rs137852547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852547(A;T)
Make rs137852547(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position72657610
GenePHKA1
is asnp
is mentioned by
dbSNPrs137852547
ebirs137852547
HLIrs137852547
Exacrs137852547
Varsomers137852547
Maprs137852547
PheGenIrs137852547
hapmaprs137852547
1000 genomesrs137852547
hgdprs137852547
ensemblrs137852547
gopubmedrs137852547
geneviewrs137852547
scholarrs137852547
googlers137852547
pharmgkbrs137852547
gwascentralrs137852547
openSNPrs137852547
23andMers137852547
23andMe allrs137852547
SNP Nexus

SNPshotrs137852547
SNPdbers137852547
MSV3drs137852547
GWAS Ctlgrs137852547
Max Magnitude0
OMIM311870
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852547(T;T)
Alt rs137852547(T;T)
Reference rs137852547(A;A)
Significance Pathogenic
Disease Glycogen storage disease IXd
Variation info
Gene PHKA1
CLNDBN Glycogen storage disease IXd
Reversed 1
HGVS NC_000023.10:g.71877460T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010603.5,