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rs121909730

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909730(C;T)
Make rs121909730(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position87053380
GeneGLUD1
is asnp
is mentioned by
dbSNPrs121909730
ebirs121909730
HLIrs121909730
Exacrs121909730
Varsomers121909730
Maprs121909730
PheGenIrs121909730
hapmaprs121909730
1000 genomesrs121909730
hgdprs121909730
ensemblrs121909730
gopubmedrs121909730
geneviewrs121909730
scholarrs121909730
googlers121909730
pharmgkbrs121909730
gwascentralrs121909730
openSNPrs121909730
23andMers121909730
23andMe allrs121909730
SNP Nexus

SNPshotrs121909730
SNPdbers121909730
MSV3drs121909730
GWAS Ctlgrs121909730
Max Magnitude0
OMIM138130
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909730(T;T)
Alt rs121909730(T;T)
Reference rs121909730(C;C)
Significance Pathogenic
Disease Hyperinsulinism-hyperammonemia syndrome
Variation info
Gene GLUD1
CLNDBN Hyperinsulinism-hyperammonemia syndrome
Reversed 1
HGVS NC_000010.10:g.88813137G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017501.22,