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rs137852286

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852286(C;T)
Make rs137852286(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18908865
GenePHKA2
is asnp
is mentioned by
dbSNPrs137852286
ebirs137852286
HLIrs137852286
Exacrs137852286
Varsomers137852286
Maprs137852286
PheGenIrs137852286
hapmaprs137852286
1000 genomesrs137852286
hgdprs137852286
ensemblrs137852286
gopubmedrs137852286
geneviewrs137852286
scholarrs137852286
googlers137852286
pharmgkbrs137852286
gwascentralrs137852286
openSNPrs137852286
23andMers137852286
23andMe allrs137852286
SNP Nexus

SNPshotrs137852286
SNPdbers137852286
MSV3drs137852286
GWAS Ctlgrs137852286
Max Magnitude0
OMIM300798
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852286(T;T)
Alt rs137852286(T;T)
Reference rs137852286(C;C)
Significance Pathogenic
Disease Glycogen storage disease type IXa1
Variation info
Gene PHKA2
CLNDBN Glycogen storage disease type IXa1
Reversed 1
HGVS NC_000023.10:g.18926983G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011274.6,