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rs137852290

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852290(A;A)
Make rs137852290(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18945139
GenePHKA2
is asnp
is mentioned by
dbSNPrs137852290
ebirs137852290
HLIrs137852290
Exacrs137852290
Varsomers137852290
Maprs137852290
PheGenIrs137852290
hapmaprs137852290
1000 genomesrs137852290
hgdprs137852290
ensemblrs137852290
gopubmedrs137852290
geneviewrs137852290
scholarrs137852290
googlers137852290
pharmgkbrs137852290
gwascentralrs137852290
openSNPrs137852290
23andMers137852290
23andMe allrs137852290
SNP Nexus

SNPshotrs137852290
SNPdbers137852290
MSV3drs137852290
GWAS Ctlgrs137852290
Max Magnitude0
OMIM300798
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852290(A;A)
Alt rs137852290(A;A)
Reference rs137852290(G;G)
Significance Pathogenic
Disease Glycogen storage disease IXa2
Variation info
Gene PHKA2
CLNDBN Glycogen storage disease IXa2
Reversed 1
HGVS NC_000023.10:g.18963257C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011281.5,