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rs121918420

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918420(A;A)
Make rs121918420(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position21546457
GeneGYS2
is asnp
is mentioned by
dbSNPrs121918420
ebirs121918420
HLIrs121918420
Exacrs121918420
Varsomers121918420
Maprs121918420
PheGenIrs121918420
hapmaprs121918420
1000 genomesrs121918420
hgdprs121918420
ensemblrs121918420
gopubmedrs121918420
geneviewrs121918420
scholarrs121918420
googlers121918420
pharmgkbrs121918420
gwascentralrs121918420
openSNPrs121918420
23andMers121918420
23andMe allrs121918420
SNP Nexus

SNPshotrs121918420
SNPdbers121918420
MSV3drs121918420
GWAS Ctlgrs121918420
Max Magnitude0
OMIM138571
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918420(A;A)
Alt rs121918420(A;A)
Reference rs121918420(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.21699391G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017429.24,