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rs144081869

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144081869(C;T)
Make rs144081869(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position64750497
GenePYGM
is asnp
is mentioned by
dbSNPrs144081869
ebirs144081869
HLIrs144081869
Exacrs144081869
Varsomers144081869
Maprs144081869
PheGenIrs144081869
hapmaprs144081869
1000 genomesrs144081869
hgdprs144081869
ensemblrs144081869
gopubmedrs144081869
geneviewrs144081869
scholarrs144081869
googlers144081869
pharmgkbrs144081869
gwascentralrs144081869
openSNPrs144081869
23andMers144081869
23andMe allrs144081869
SNP Nexus

SNPshotrs144081869
SNPdbers144081869
MSV3drs144081869
GWAS Ctlgrs144081869
Max Magnitude0
ClinVar
Risk rs144081869(T;T)
Alt rs144081869(T;T)
Reference rs144081869(C;C)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 0
HGVS NC_000011.9:g.64517969C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002396.4,