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rs34667348

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34667348(A;A)
Make rs34667348(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position47650919
GenePHKB
is asnp
is mentioned by
dbSNPrs34667348
ebirs34667348
HLIrs34667348
Exacrs34667348
Varsomers34667348
Maprs34667348
PheGenIrs34667348
hapmaprs34667348
1000 genomesrs34667348
hgdprs34667348
ensemblrs34667348
gopubmedrs34667348
geneviewrs34667348
scholarrs34667348
googlers34667348
pharmgkbrs34667348
gwascentralrs34667348
openSNPrs34667348
23andMers34667348
23andMe allrs34667348
SNP Nexus

SNPshotrs34667348
SNPdbers34667348
MSV3drs34667348
GWAS Ctlgrs34667348
GMAF0.002296
Max Magnitude0
OMIM172490
Desc
Variant0002
Relatedalso


ClinVar
Risk rs34667348(A,T;A,T)
Alt rs34667348(A,T;A,T)
Reference rs34667348(C;C)
Significance Pathogenic
Disease Glycogen storage disease IXb
Variation info
Gene PHKB
CLNDBN Glycogen storage disease IXb
Reversed 0
HGVS NC_000016.9:g.47684830C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014588.26,