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rs56275071

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs56275071(C;T)
Make rs56275071(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position87062757
GeneGLUD1
is asnp
is mentioned by
dbSNPrs56275071
ebirs56275071
HLIrs56275071
Exacrs56275071
Varsomers56275071
Maprs56275071
PheGenIrs56275071
hapmaprs56275071
1000 genomesrs56275071
hgdprs56275071
ensemblrs56275071
gopubmedrs56275071
geneviewrs56275071
scholarrs56275071
googlers56275071
pharmgkbrs56275071
gwascentralrs56275071
openSNPrs56275071
23andMers56275071
23andMe allrs56275071
SNP Nexus

SNPshotrs56275071
SNPdbers56275071
MSV3drs56275071
GWAS Ctlgrs56275071
Max Magnitude0
OMIM138130
Desc
Variant0008
Relatedalso
ClinVar
Risk rs56275071(T;T)
Alt rs56275071(T;T)
Reference rs56275071(C;C)
Significance Pathogenic
Disease Hyperinsulinism-hyperammonemia syndrome
Variation info
Gene GLUD1
CLNDBN Hyperinsulinism-hyperammonemia syndrome
Reversed 1
HGVS NC_000010.10:g.88822514G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017508.27,