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rs121918422

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918422(G;G)
Make rs121918422(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position21546421
GeneGYS2
is asnp
is mentioned by
dbSNPrs121918422
ebirs121918422
HLIrs121918422
Exacrs121918422
Varsomers121918422
Maprs121918422
PheGenIrs121918422
hapmaprs121918422
1000 genomesrs121918422
hgdprs121918422
ensemblrs121918422
gopubmedrs121918422
geneviewrs121918422
scholarrs121918422
googlers121918422
pharmgkbrs121918422
gwascentralrs121918422
openSNPrs121918422
23andMers121918422
23andMe allrs121918422
SNP Nexus

SNPshotrs121918422
SNPdbers121918422
MSV3drs121918422
GWAS Ctlgrs121918422
Max Magnitude0
OMIM138571
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918422(G;G)
Alt rs121918422(G;G)
Reference rs121918422(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.21699355A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017431.28,