rs4746
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs4746(A;C) |
| Make rs4746(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 38682852 |
| Gene | GLO1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4746 |
| dbSNP (classic) | rs4746 |
| ClinGen | rs4746 |
| ebi | rs4746 |
| HLI | rs4746 |
| Exac | rs4746 |
| Gnomad | rs4746 |
| Varsome | rs4746 |
| LitVar | rs4746 |
| Map | rs4746 |
| PheGenI | rs4746 |
| Biobank | rs4746 |
| 1000 genomes | rs4746 |
| hgdp | rs4746 |
| ensembl | rs4746 |
| geneview | rs4746 |
| scholar | rs4746 |
| rs4746 | |
| pharmgkb | rs4746 |
| gwascentral | rs4746 |
| openSNP | rs4746 |
| 23andMe | rs4746 |
| SNPshot | rs4746 |
| SNPdbe | rs4746 |
| MSV3d | rs4746 |
| GWAS Ctlg | rs4746 |
| Merged from | Rs17851360, Rs2736654 |
| GMAF | 0.303 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| 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 UniProtKB (protein) |
| CLNACC | RCV000017412.1, |
[PMID 18518984
] Genome-wide survey of allele-specific splicing in humans.
[PMID 18639233] 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 19470168] NPAS2 and PER2 are linked to risk factors of the metabolic syndrome.
[PMID 20180986] CLOCK is suggested to associate with comorbid alcohol use and depressive disorders.
[PMID 21491613] Glyoxalase I polymorphism rs2736654 causing the Ala111Glu substitution modulates enzyme activity--implications for autism.
[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
[PMID 31661534] Common variants in glyoxalase I do not increase chronic pancreatitis risk.
