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rs121918425

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918425(C;G)
Make rs121918425(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position21558286
GeneGYS2
is asnp
is mentioned by
dbSNPrs121918425
ebirs121918425
HLIrs121918425
Exacrs121918425
Varsomers121918425
Maprs121918425
PheGenIrs121918425
hapmaprs121918425
1000 genomesrs121918425
hgdprs121918425
ensemblrs121918425
gopubmedrs121918425
geneviewrs121918425
scholarrs121918425
googlers121918425
pharmgkbrs121918425
gwascentralrs121918425
openSNPrs121918425
23andMers121918425
23andMe allrs121918425
SNP Nexus

SNPshotrs121918425
SNPdbers121918425
MSV3drs121918425
GWAS Ctlgrs121918425
Max Magnitude0
OMIM138571
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918425(A,G;A,G)
Alt rs121918425(A,G;A,G)
Reference rs121918425(C;C)
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.21711220G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017434.26,