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rs797044442

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797044442(A;G)
Make rs797044442(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position47502989
GenePHKB
is asnp
is mentioned by
dbSNPrs797044442
ebirs797044442
HLIrs797044442
Exacrs797044442
Varsomers797044442
Maprs797044442
PheGenIrs797044442
hapmaprs797044442
1000 genomesrs797044442
hgdprs797044442
ensemblrs797044442
gopubmedrs797044442
geneviewrs797044442
scholarrs797044442
googlers797044442
pharmgkbrs797044442
gwascentralrs797044442
openSNPrs797044442
23andMers797044442
23andMe allrs797044442
SNP Nexus

SNPshotrs797044442
SNPdbers797044442
MSV3drs797044442
GWAS Ctlgrs797044442
Max Magnitude0
ClinVar
Risk rs797044442(G;G)
Alt rs797044442(G;G)
Reference rs797044442(A;A)
Significance Pathogenic
Disease Glycogen storage disease IXb
Variation info
Gene PHKB
CLNDBN Glycogen storage disease IXb
Reversed 0
HGVS NC_000016.9:g.47536900A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014589.20,