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

rs797045008

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045008(C;T)
Make rs797045008(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position18940030
GenePHKA2
is asnp
is mentioned by
dbSNPrs797045008
ebirs797045008
HLIrs797045008
Exacrs797045008
Varsomers797045008
Maprs797045008
PheGenIrs797045008
hapmaprs797045008
1000 genomesrs797045008
hgdprs797045008
ensemblrs797045008
gopubmedrs797045008
geneviewrs797045008
scholarrs797045008
googlers797045008
pharmgkbrs797045008
gwascentralrs797045008
openSNPrs797045008
23andMers797045008
23andMe allrs797045008
SNP Nexus

SNPshotrs797045008
SNPdbers797045008
MSV3drs797045008
GWAS Ctlgrs797045008
Max Magnitude0
ClinVar
Risk rs797045008(T;T)
Alt rs797045008(T;T)
Reference rs797045008(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.18958148G>A
CLNSRC
CLNACC RCV000190506.1,