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rs121909734

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909734(A;A)
Make rs121909734(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position87053403
GeneGLUD1
is asnp
is mentioned by
dbSNPrs121909734
ebirs121909734
HLIrs121909734
Exacrs121909734
Varsomers121909734
Maprs121909734
PheGenIrs121909734
hapmaprs121909734
1000 genomesrs121909734
hgdprs121909734
ensemblrs121909734
gopubmedrs121909734
geneviewrs121909734
scholarrs121909734
googlers121909734
pharmgkbrs121909734
gwascentralrs121909734
openSNPrs121909734
23andMers121909734
23andMe allrs121909734
SNP Nexus

SNPshotrs121909734
SNPdbers121909734
MSV3drs121909734
GWAS Ctlgrs121909734
Max Magnitude0
OMIM138130
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909734(A;A)
Alt rs121909734(A;A)
Reference rs121909734(G;G)
Significance Pathogenic
Disease Hyperinsulinism-hyperammonemia syndrome
Variation info
Gene GLUD1
CLNDBN Hyperinsulinism-hyperammonemia syndrome
Reversed 1
HGVS NC_000010.10:g.88813160C>A; NC_000010.10:g.88813160C>T
CLNSRC University Hospital of Geneva OMIM Allelic Variant
CLNACC RCV000211493.1, RCV000017505.23,