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rs137852289

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852289(A;G)
Make rs137852289(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18940017
GenePHKA2
is asnp
is mentioned by
dbSNPrs137852289
ebirs137852289
HLIrs137852289
Exacrs137852289
Varsomers137852289
Maprs137852289
PheGenIrs137852289
hapmaprs137852289
1000 genomesrs137852289
hgdprs137852289
ensemblrs137852289
gopubmedrs137852289
geneviewrs137852289
scholarrs137852289
googlers137852289
pharmgkbrs137852289
gwascentralrs137852289
openSNPrs137852289
23andMers137852289
23andMe allrs137852289
SNP Nexus

SNPshotrs137852289
SNPdbers137852289
MSV3drs137852289
GWAS Ctlgrs137852289
Max Magnitude0
OMIM300798
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852289(G;G)
Alt rs137852289(G;G)
Reference rs137852289(A;A)
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.18958135T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011280.5,