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rs121909733

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909733(A;A)
Make rs121909733(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position87053404
GeneGLUD1
is asnp
is mentioned by
dbSNPrs121909733
ebirs121909733
HLIrs121909733
Exacrs121909733
Varsomers121909733
Maprs121909733
PheGenIrs121909733
hapmaprs121909733
1000 genomesrs121909733
hgdprs121909733
ensemblrs121909733
gopubmedrs121909733
geneviewrs121909733
scholarrs121909733
googlers121909733
pharmgkbrs121909733
gwascentralrs121909733
openSNPrs121909733
23andMers121909733
23andMe allrs121909733
SNP Nexus

SNPshotrs121909733
SNPdbers121909733
MSV3drs121909733
GWAS Ctlgrs121909733
Max Magnitude0
OMIM138130
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909733(A;A)
Alt rs121909733(A;A)
Reference rs121909733(G;G)
Significance Pathogenic
Disease Hyperinsulinism-hyperammonemia syndrome
Variation info
Gene GLUD1
CLNDBN Hyperinsulinism-hyperammonemia syndrome
Reversed 1
HGVS NC_000010.10:g.88813161C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017504.27,