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rs137852285

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852285(C;T)
Make rs137852285(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18901487
GenePHKA2
is asnp
is mentioned by
dbSNPrs137852285
ebirs137852285
HLIrs137852285
Exacrs137852285
Varsomers137852285
Maprs137852285
PheGenIrs137852285
hapmaprs137852285
1000 genomesrs137852285
hgdprs137852285
ensemblrs137852285
gopubmedrs137852285
geneviewrs137852285
scholarrs137852285
googlers137852285
pharmgkbrs137852285
gwascentralrs137852285
openSNPrs137852285
23andMers137852285
23andMe allrs137852285
SNP Nexus

SNPshotrs137852285
SNPdbers137852285
MSV3drs137852285
GWAS Ctlgrs137852285
Max Magnitude0
OMIM300798
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852285(T;T)
Alt rs137852285(T;T)
Reference rs137852285(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.18919605G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011273.3,