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rs121918419

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918419(C;T)
Make rs121918419(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position21568952
GeneGYS2
is asnp
is mentioned by
dbSNPrs121918419
ebirs121918419
HLIrs121918419
Exacrs121918419
Varsomers121918419
Maprs121918419
PheGenIrs121918419
hapmaprs121918419
1000 genomesrs121918419
hgdprs121918419
ensemblrs121918419
gopubmedrs121918419
geneviewrs121918419
scholarrs121918419
googlers121918419
pharmgkbrs121918419
gwascentralrs121918419
openSNPrs121918419
23andMers121918419
23andMe allrs121918419
SNP Nexus

SNPshotrs121918419
SNPdbers121918419
MSV3drs121918419
GWAS Ctlgrs121918419
Max Magnitude0
OMIM138571
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918419(T;T)
Alt rs121918419(T;T)
Reference rs121918419(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.21721886G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017427.28,