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rs137852287

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852287(A;A)
Make rs137852287(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18897299
GenePHKA2
is asnp
is mentioned by
dbSNPrs137852287
ebirs137852287
HLIrs137852287
Exacrs137852287
Varsomers137852287
Maprs137852287
PheGenIrs137852287
hapmaprs137852287
1000 genomesrs137852287
hgdprs137852287
ensemblrs137852287
gopubmedrs137852287
geneviewrs137852287
scholarrs137852287
googlers137852287
pharmgkbrs137852287
gwascentralrs137852287
openSNPrs137852287
23andMers137852287
23andMe allrs137852287
SNP Nexus

SNPshotrs137852287
SNPdbers137852287
MSV3drs137852287
GWAS Ctlgrs137852287
Max Magnitude0
OMIM300798
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852287(A;A)
Alt rs137852287(A;A)
Reference rs137852287(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.18915417G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011276.3,