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rs4746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs4746(A;C)
Make rs4746(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position38682852
GeneGLO1
is asnp
is mentioned by
dbSNPrs4746
ebirs4746
HLIrs4746
Exacrs4746
Varsomers4746
Maprs4746
PheGenIrs4746
hapmaprs4746
1000 genomesrs4746
hgdprs4746
ensemblrs4746
gopubmedrs4746
geneviewrs4746
scholarrs4746
googlers4746
pharmgkbrs4746
gwascentralrs4746
openSNPrs4746
23andMers4746
23andMe allrs4746
SNP Nexus

SNPshotrs4746
SNPdbers4746
MSV3drs4746
GWAS Ctlgrs4746
Merged fromRs17851360, Rs2736654
GMAF0.303
Max Magnitude0
? (A;A) (A;C) (C;C) 28
OMIM138750
Desc
Variant0001
Relatedalso


ClinVar
Risk rs4746(C;C)
Alt rs4746(C;C)
Reference rs4746(A;A)
Significance Unknown
Disease Autism 1
Variation info
Gene GLO1
CLNDBN Autism 1
Reversed 1
HGVS NC_000006.11:g.38650628T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017412.1,



[PMID 18518984OA-icon.png] Genome-wide survey of allele-specific splicing in humans.


[PMID 18639233OA-icon.png] An association analysis of murine anxiety genes in humans implicates novel candidate genes for anxiety disorders.


[PMID 19412133] Polymorphisms in glyoxalase 1 gene are not associated with vascular complications: the Hoorn and CoDAM studies.


[PMID 19470168OA-icon.png] NPAS2 and PER2 are linked to risk factors of the metabolic syndrome.


[PMID 20180986OA-icon.png] CLOCK is suggested to associate with comorbid alcohol use and depressive disorders.


[PMID 21491613OA-icon.png] Glyoxalase I polymorphism rs2736654 causing the Ala111Glu substitution modulates enzyme activity--implications for autism.


GET Evidence
GLO1-E111A
aa_change Glu111Ala
aa_change_short E111A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.408254
summary



[PMID 23201419] Identification of glyoxalase 1 polymorphisms associated with enzyme activity.


[PMID 23775136] C332C genotype of glyoxalase 1 and its association with late diabetic complications.


[PMID 24908234] Fructosamine 3-kinase and glyoxalase I polymorphisms and their association with soluble RAGE and adhesion molecules in diabetes


[PMID 25201284] The GLO1 C332 (Ala111) allele confers autism vulnerability: family-based genetic association and functional correlates