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rs121918022

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918022(C;C)
Make rs121918022(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position47503037
GenePHKB
is asnp
is mentioned by
dbSNPrs121918022
ebirs121918022
HLIrs121918022
Exacrs121918022
Varsomers121918022
Maprs121918022
PheGenIrs121918022
hapmaprs121918022
1000 genomesrs121918022
hgdprs121918022
ensemblrs121918022
gopubmedrs121918022
geneviewrs121918022
scholarrs121918022
googlers121918022
pharmgkbrs121918022
gwascentralrs121918022
openSNPrs121918022
23andMers121918022
23andMe allrs121918022
SNP Nexus

SNPshotrs121918022
SNPdbers121918022
MSV3drs121918022
GWAS Ctlgrs121918022
Max Magnitude0
OMIM172490
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918022(C;C)
Alt rs121918022(C;C)
Reference rs121918022(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.47536948G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014592.21,