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rs121434584

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434584(C;T)
Make rs121434584(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position48974658
GeneGYS1
is asnp
is mentioned by
dbSNPrs121434584
ebirs121434584
HLIrs121434584
Exacrs121434584
Varsomers121434584
Maprs121434584
PheGenIrs121434584
hapmaprs121434584
1000 genomesrs121434584
hgdprs121434584
ensemblrs121434584
gopubmedrs121434584
geneviewrs121434584
scholarrs121434584
googlers121434584
pharmgkbrs121434584
gwascentralrs121434584
openSNPrs121434584
23andMers121434584
23andMe allrs121434584
SNP Nexus

SNPshotrs121434584
SNPdbers121434584
MSV3drs121434584
GWAS Ctlgrs121434584
Max Magnitude0
OMIM138570
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434584(T;T)
Alt rs121434584(T;T)
Reference rs121434584(C;C)
Significance Pathogenic
Disease Glycogen storage disease 0
Variation info
Gene GYS1
CLNDBN Glycogen storage disease 0, muscle
Reversed 1
HGVS NC_000019.9:g.49477915G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017435.29,