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rs137852291

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852291(A;C)
Make rs137852291(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18951163
GenePHKA2
is asnp
is mentioned by
dbSNPrs137852291
ebirs137852291
HLIrs137852291
Exacrs137852291
Varsomers137852291
Maprs137852291
PheGenIrs137852291
hapmaprs137852291
1000 genomesrs137852291
hgdprs137852291
ensemblrs137852291
gopubmedrs137852291
geneviewrs137852291
scholarrs137852291
googlers137852291
pharmgkbrs137852291
gwascentralrs137852291
openSNPrs137852291
23andMers137852291
23andMe allrs137852291
SNP Nexus

SNPshotrs137852291
SNPdbers137852291
MSV3drs137852291
GWAS Ctlgrs137852291
Max Magnitude0
OMIM300798
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137852291(C;C)
Alt rs137852291(C;C)
Reference rs137852291(A;A)
Significance Pathogenic
Disease Glycogen storage disease IXa2
Variation info
Gene PHKA2
CLNDBN Glycogen storage disease IXa2
Reversed 1
HGVS NC_000023.10:g.18969281T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011282.5,