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

rs137852295

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852295(A;G)
Make rs137852295(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18945131
GenePHKA2
is asnp
is mentioned by
dbSNPrs137852295
ebirs137852295
HLIrs137852295
Exacrs137852295
Varsomers137852295
Maprs137852295
PheGenIrs137852295
hapmaprs137852295
1000 genomesrs137852295
hgdprs137852295
ensemblrs137852295
gopubmedrs137852295
geneviewrs137852295
scholarrs137852295
googlers137852295
pharmgkbrs137852295
gwascentralrs137852295
openSNPrs137852295
23andMers137852295
23andMe allrs137852295
SNP Nexus

SNPshotrs137852295
SNPdbers137852295
MSV3drs137852295
GWAS Ctlgrs137852295
Max Magnitude0
OMIM300798
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137852295(G;G)
Alt rs137852295(G;G)
Reference rs137852295(A;A)
Significance Pathogenic
Disease Glycogen storage disease IXa2
Variation info
Gene PHKA2
CLNDBN Glycogen storage disease IXa2
Reversed 1
HGVS NC_000023.10:g.18963249T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011287.8,