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rs121918421

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918421(C;C)
Make rs121918421(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position21562965
GeneGYS2
is asnp
is mentioned by
dbSNPrs121918421
ebirs121918421
HLIrs121918421
Exacrs121918421
Varsomers121918421
Maprs121918421
PheGenIrs121918421
hapmaprs121918421
1000 genomesrs121918421
hgdprs121918421
ensemblrs121918421
gopubmedrs121918421
geneviewrs121918421
scholarrs121918421
googlers121918421
pharmgkbrs121918421
gwascentralrs121918421
openSNPrs121918421
23andMers121918421
23andMe allrs121918421
SNP Nexus

SNPshotrs121918421
SNPdbers121918421
MSV3drs121918421
GWAS Ctlgrs121918421
Max Magnitude0
OMIM138571
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918421(C;C)
Alt rs121918421(C;C)
Reference rs121918421(G;G)
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.21715899C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017430.25,