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rs137852292

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852292(C;T)
Make rs137852292(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18951164
GenePHKA2
is asnp
is mentioned by
dbSNPrs137852292
ebirs137852292
HLIrs137852292
Exacrs137852292
Varsomers137852292
Maprs137852292
PheGenIrs137852292
hapmaprs137852292
1000 genomesrs137852292
hgdprs137852292
ensemblrs137852292
gopubmedrs137852292
geneviewrs137852292
scholarrs137852292
googlers137852292
pharmgkbrs137852292
gwascentralrs137852292
openSNPrs137852292
23andMers137852292
23andMe allrs137852292
SNP Nexus

SNPshotrs137852292
SNPdbers137852292
MSV3drs137852292
GWAS Ctlgrs137852292
Max Magnitude0
OMIM300798
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852292(T;T)
Alt rs137852292(T;T)
Reference rs137852292(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.18969282G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011283.8,