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rs137852288

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852288(C;T)
Make rs137852288(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18893579
GenePHKA2
is asnp
is mentioned by
dbSNPrs137852288
ebirs137852288
HLIrs137852288
Exacrs137852288
Varsomers137852288
Maprs137852288
PheGenIrs137852288
hapmaprs137852288
1000 genomesrs137852288
hgdprs137852288
ensemblrs137852288
gopubmedrs137852288
geneviewrs137852288
scholarrs137852288
googlers137852288
pharmgkbrs137852288
gwascentralrs137852288
openSNPrs137852288
23andMers137852288
23andMe allrs137852288
SNP Nexus

SNPshotrs137852288
SNPdbers137852288
MSV3drs137852288
GWAS Ctlgrs137852288
Max Magnitude0
OMIM300798
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852288(T;T)
Alt rs137852288(T;T)
Reference rs137852288(C;C)
Significance Pathogenic
Disease Glycogen storage disease type IXa1
Variation info
Gene PHKA2 PHKA2-AS1
CLNDBN Glycogen storage disease type IXa1
Reversed 1
HGVS NC_000023.10:g.18911697G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011277.4,