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rs797045597

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045597(A;A)
Make rs797045597(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position87053401
GeneGLUD1
is asnp
is mentioned by
dbSNPrs797045597
ebirs797045597
HLIrs797045597
Exacrs797045597
Varsomers797045597
Maprs797045597
PheGenIrs797045597
hapmaprs797045597
1000 genomesrs797045597
hgdprs797045597
ensemblrs797045597
gopubmedrs797045597
geneviewrs797045597
scholarrs797045597
googlers797045597
pharmgkbrs797045597
gwascentralrs797045597
openSNPrs797045597
23andMers797045597
23andMe allrs797045597
SNP Nexus

SNPshotrs797045597
SNPdbers797045597
MSV3drs797045597
GWAS Ctlgrs797045597
Max Magnitude0
ClinVar
Risk rs797045597(A;A)
Alt rs797045597(A;A)
Reference rs797045597(G;G)
Significance Probable-Pathogenic
Disease Hyperinsulinism-hyperammonemia syndrome
Variation info
Gene GLUD1
CLNDBN Hyperinsulinism-hyperammonemia syndrome
Reversed 1
HGVS NC_000010.10:g.88813158C>T
CLNSRC
CLNACC RCV000193805.1,