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rs121909735

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909735(A;C)
Make rs121909735(C;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position87060928
GeneGLUD1
is asnp
is mentioned by
dbSNPrs121909735
ebirs121909735
HLIrs121909735
Exacrs121909735
Varsomers121909735
Maprs121909735
PheGenIrs121909735
hapmaprs121909735
1000 genomesrs121909735
hgdprs121909735
ensemblrs121909735
gopubmedrs121909735
geneviewrs121909735
scholarrs121909735
googlers121909735
pharmgkbrs121909735
gwascentralrs121909735
openSNPrs121909735
23andMers121909735
23andMe allrs121909735
SNP Nexus

SNPshotrs121909735
SNPdbers121909735
MSV3drs121909735
GWAS Ctlgrs121909735
Max Magnitude0
OMIM138130
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909735(C;C)
Alt rs121909735(C;C)
Reference rs121909735(A;A)
Significance Pathogenic
Disease Hyperinsulinism-hyperammonemia syndrome
Variation info
Gene GLUD1
CLNDBN Hyperinsulinism-hyperammonemia syndrome
Reversed 1
HGVS NC_000010.10:g.88820685T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017506.27,