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rs587776732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAA;GAA) 0 common in clinvar
(TTCC;TTCC) 0 common in clinvar
Make rs587776732(-;-)
Make rs587776732(-;GAA)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18951135
GenePHKA2
is asnp
is mentioned by
dbSNPrs587776732
ebirs587776732
HLIrs587776732
Exacrs587776732
Varsomers587776732
Maprs587776732
PheGenIrs587776732
hapmaprs587776732
1000 genomesrs587776732
hgdprs587776732
ensemblrs587776732
gopubmedrs587776732
geneviewrs587776732
scholarrs587776732
googlers587776732
pharmgkbrs587776732
gwascentralrs587776732
openSNPrs587776732
23andMers587776732
23andMe allrs587776732
SNP Nexus

SNPshotrs587776732
SNPdbers587776732
MSV3drs587776732
GWAS Ctlgrs587776732
Max Magnitude0
ClinVar
Risk rs587776732(GAAC,C;GAAC,C)
Alt rs587776732(GAAC,C;GAAC,C)
Reference rs587776732(TTCC;TTCC)
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.18969253_18969255delGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000011278.6,