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rs121918424

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918424(C;C)
Make rs121918424(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position21546446
GeneGYS2
is asnp
is mentioned by
dbSNPrs121918424
ebirs121918424
HLIrs121918424
Exacrs121918424
Varsomers121918424
Maprs121918424
PheGenIrs121918424
hapmaprs121918424
1000 genomesrs121918424
hgdprs121918424
ensemblrs121918424
gopubmedrs121918424
geneviewrs121918424
scholarrs121918424
googlers121918424
pharmgkbrs121918424
gwascentralrs121918424
openSNPrs121918424
23andMers121918424
23andMe allrs121918424
SNP Nexus

SNPshotrs121918424
SNPdbers121918424
MSV3drs121918424
GWAS Ctlgrs121918424
Max Magnitude0
OMIM138571
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918424(C;C)
Alt rs121918424(C;C)
Reference rs121918424(T;T)
Significance Pathogenic
Disease Hypoglycemia with deficiency of glycogen synthetase in the liver
Variation info
Gene GYS2
CLNDBN Hypoglycemia with deficiency of glycogen synthetase in the liver
Reversed 1
HGVS NC_000012.11:g.21699380A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017433.25,