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rs137852294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852294(C;T)
Make rs137852294(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18945140
GenePHKA2
is asnp
is mentioned by
dbSNPrs137852294
ebirs137852294
HLIrs137852294
Exacrs137852294
Varsomers137852294
Maprs137852294
PheGenIrs137852294
hapmaprs137852294
1000 genomesrs137852294
hgdprs137852294
ensemblrs137852294
gopubmedrs137852294
geneviewrs137852294
scholarrs137852294
googlers137852294
pharmgkbrs137852294
gwascentralrs137852294
openSNPrs137852294
23andMers137852294
23andMe allrs137852294
SNP Nexus

SNPshotrs137852294
SNPdbers137852294
MSV3drs137852294
GWAS Ctlgrs137852294
Max Magnitude0
OMIM300798
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137852294(T;T)
Alt rs137852294(T;T)
Reference rs137852294(C;C)
Significance Pathogenic
Disease Glycogen storage disease IXa2
Variation info
Gene PHKA2
CLNDBN Glycogen storage disease IXa2
Reversed 1
HGVS NC_000023.10:g.18963258G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011284.3,