Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852293

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852293(C;T)
Make rs137852293(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18894400
GenePHKA2
is asnp
is mentioned by
dbSNPrs137852293
ebirs137852293
HLIrs137852293
Exacrs137852293
Varsomers137852293
Maprs137852293
PheGenIrs137852293
hapmaprs137852293
1000 genomesrs137852293
hgdprs137852293
ensemblrs137852293
gopubmedrs137852293
geneviewrs137852293
scholarrs137852293
googlers137852293
pharmgkbrs137852293
gwascentralrs137852293
openSNPrs137852293
23andMers137852293
23andMe allrs137852293
SNP Nexus

SNPshotrs137852293
SNPdbers137852293
MSV3drs137852293
GWAS Ctlgrs137852293
Max Magnitude0
OMIM300798
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137852293(T;T)
Alt rs137852293(T;T)
Reference rs137852293(C;C)
Significance Pathogenic
Disease Glycogen storage disease IXa2
Variation info
Gene PHKA2 PHKA2-AS1
CLNDBN Glycogen storage disease IXa2
Reversed 1
HGVS NC_000023.10:g.18912518G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011279.3,