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rs121909737

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909737(A;A)
Make rs121909737(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position87061009
GeneGLUD1
is asnp
is mentioned by
dbSNPrs121909737
ebirs121909737
HLIrs121909737
Exacrs121909737
Varsomers121909737
Maprs121909737
PheGenIrs121909737
hapmaprs121909737
1000 genomesrs121909737
hgdprs121909737
ensemblrs121909737
gopubmedrs121909737
geneviewrs121909737
scholarrs121909737
googlers121909737
pharmgkbrs121909737
gwascentralrs121909737
openSNPrs121909737
23andMers121909737
23andMe allrs121909737
SNP Nexus

SNPshotrs121909737
SNPdbers121909737
MSV3drs121909737
GWAS Ctlgrs121909737
Max Magnitude0
OMIM138130
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121909737(A;A)
Alt rs121909737(A;A)
Reference rs121909737(G;G)
Significance Pathogenic
Disease Hyperinsulinism-hyperammonemia syndrome
Variation info
Gene GLUD1
CLNDBN Hyperinsulinism-hyperammonemia syndrome
Reversed 1
HGVS NC_000010.10:g.88820766C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017509.27,