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rs587776733

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GACA;GACA) 0 common in clinvar
(GTC;GTC) 0 common in clinvar
Make rs587776733(-;-)
Make rs587776733(-;GTC)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18941641
GenePHKA2
is asnp
is mentioned by
dbSNPrs587776733
ebirs587776733
HLIrs587776733
Exacrs587776733
Varsomers587776733
Maprs587776733
PheGenIrs587776733
hapmaprs587776733
1000 genomesrs587776733
hgdprs587776733
ensemblrs587776733
gopubmedrs587776733
geneviewrs587776733
scholarrs587776733
googlers587776733
pharmgkbrs587776733
gwascentralrs587776733
openSNPrs587776733
23andMers587776733
23andMe allrs587776733
SNP Nexus

SNPshotrs587776733
SNPdbers587776733
MSV3drs587776733
GWAS Ctlgrs587776733
Max Magnitude0
ClinVar
Risk rs587776733(GTCA,A;GTCA,A)
Alt rs587776733(GTCA,A;GTCA,A)
Reference rs587776733(GACA;GACA)
Significance Pathogenic
Disease Glycogen storage disease IXa2
Variation info
Gene PHKA2
CLNDBN Glycogen storage disease IXa2
Reversed 1
HGVS NC_000023.10:g.18959759_18959761delGTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000011285.5,