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rs121918423

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918423(A;G)
Make rs121918423(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position21604477
GeneGYS2
is asnp
is mentioned by
dbSNPrs121918423
ebirs121918423
HLIrs121918423
Exacrs121918423
Varsomers121918423
Maprs121918423
PheGenIrs121918423
hapmaprs121918423
1000 genomesrs121918423
hgdprs121918423
ensemblrs121918423
gopubmedrs121918423
geneviewrs121918423
scholarrs121918423
googlers121918423
pharmgkbrs121918423
gwascentralrs121918423
openSNPrs121918423
23andMers121918423
23andMe allrs121918423
SNP Nexus

SNPshotrs121918423
SNPdbers121918423
MSV3drs121918423
GWAS Ctlgrs121918423
Max Magnitude0
OMIM138571
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918423(G;G)
Alt rs121918423(G;G)
Reference rs121918423(A;A)
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.21757411T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017432.28,