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rs199948078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199948078(G;T)
Make rs199948078(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position47696411
GenePHKB
is asnp
is mentioned by
dbSNPrs199948078
ebirs199948078
HLIrs199948078
Exacrs199948078
Varsomers199948078
Maprs199948078
PheGenIrs199948078
hapmaprs199948078
1000 genomesrs199948078
hgdprs199948078
ensemblrs199948078
gopubmedrs199948078
geneviewrs199948078
scholarrs199948078
googlers199948078
pharmgkbrs199948078
gwascentralrs199948078
openSNPrs199948078
23andMers199948078
23andMe allrs199948078
SNP Nexus

SNPshotrs199948078
SNPdbers199948078
MSV3drs199948078
GWAS Ctlgrs199948078
Max Magnitude0
ClinVar
Risk rs199948078(T;T)
Alt rs199948078(T;T)
Reference rs199948078(G;G)
Significance Pathogenic
Disease Glycogen storage disease IXb
Variation info
Gene PHKB
CLNDBN Glycogen storage disease IXb
Reversed 0
HGVS NC_000016.9:g.47730322G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014591.26,