Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918021

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918021(A;A)
Make rs121918021(A;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position47596425
GenePHKB
is asnp
is mentioned by
dbSNPrs121918021
ebirs121918021
HLIrs121918021
Exacrs121918021
Varsomers121918021
Maprs121918021
PheGenIrs121918021
hapmaprs121918021
1000 genomesrs121918021
hgdprs121918021
ensemblrs121918021
gopubmedrs121918021
geneviewrs121918021
scholarrs121918021
googlers121918021
pharmgkbrs121918021
gwascentralrs121918021
openSNPrs121918021
23andMers121918021
23andMe allrs121918021
SNP Nexus

SNPshotrs121918021
SNPdbers121918021
MSV3drs121918021
GWAS Ctlgrs121918021
Max Magnitude0
OMIM172490
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918021(A;A)
Alt rs121918021(A;A)
Reference rs121918021(T;T)
Significance Pathogenic
Disease Glycogen storage disease IXb
Variation info
Gene PHKB
CLNDBN Glycogen storage disease IXb
Reversed 0
HGVS NC_000016.9:g.47630336T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014590.27,