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rs121909736

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909736(A;A)
Make rs121909736(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position87061021
GeneGLUD1
is asnp
is mentioned by
dbSNPrs121909736
ebirs121909736
HLIrs121909736
Exacrs121909736
Varsomers121909736
Maprs121909736
PheGenIrs121909736
hapmaprs121909736
1000 genomesrs121909736
hgdprs121909736
ensemblrs121909736
gopubmedrs121909736
geneviewrs121909736
scholarrs121909736
googlers121909736
pharmgkbrs121909736
gwascentralrs121909736
openSNPrs121909736
23andMers121909736
23andMe allrs121909736
SNP Nexus

SNPshotrs121909736
SNPdbers121909736
MSV3drs121909736
GWAS Ctlgrs121909736
Max Magnitude0
OMIM138130
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121909736(A;A)
Alt rs121909736(A;A)
Reference rs121909736(G;G)
Significance Pathogenic
Disease Hyperinsulinism-hyperammonemia syndrome
Variation info
Gene GLUD1
CLNDBN Hyperinsulinism-hyperammonemia syndrome
Reversed 1
HGVS NC_000010.10:g.88820778C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017507.27,