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rs587776731

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776731(A;A)
Make rs587776731(A;C)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18943709
GenePHKA2
is asnp
is mentioned by
dbSNPrs587776731
ebirs587776731
HLIrs587776731
Exacrs587776731
Varsomers587776731
Maprs587776731
PheGenIrs587776731
hapmaprs587776731
1000 genomesrs587776731
hgdprs587776731
ensemblrs587776731
gopubmedrs587776731
geneviewrs587776731
scholarrs587776731
googlers587776731
pharmgkbrs587776731
gwascentralrs587776731
openSNPrs587776731
23andMers587776731
23andMe allrs587776731
SNP Nexus

SNPshotrs587776731
SNPdbers587776731
MSV3drs587776731
GWAS Ctlgrs587776731
Max Magnitude0
ClinVar
Risk rs587776731(A,C;A,C)
Alt rs587776731(A,C;A,C)
Reference rs587776731(G;G)
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.18961827C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011275.6,