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rs121909732

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909732(C;C)
Make rs121909732(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position87053398
GeneGLUD1
is asnp
is mentioned by
dbSNPrs121909732
ebirs121909732
HLIrs121909732
Exacrs121909732
Varsomers121909732
Maprs121909732
PheGenIrs121909732
hapmaprs121909732
1000 genomesrs121909732
hgdprs121909732
ensemblrs121909732
gopubmedrs121909732
geneviewrs121909732
scholarrs121909732
googlers121909732
pharmgkbrs121909732
gwascentralrs121909732
openSNPrs121909732
23andMers121909732
23andMe allrs121909732
SNP Nexus

SNPshotrs121909732
SNPdbers121909732
MSV3drs121909732
GWAS Ctlgrs121909732
Max Magnitude0
OMIM138130
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909732(C;C)
Alt rs121909732(C;C)
Reference rs121909732(T;T)
Significance Pathogenic
Disease Hyperinsulinism-hyperammonemia syndrome
Variation info
Gene GLUD1
CLNDBN Hyperinsulinism-hyperammonemia syndrome
Reversed 1
HGVS NC_000010.10:g.88813155A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017503.27,