rs1800435
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 3 | Carrier of an ALAD deficiency porphyria mutation |
| (G;G) | 0 | common in clinvar |
| Make rs1800435(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 113391611 |
| Gene | ALAD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800435 |
| dbSNP (classic) | rs1800435 |
| ClinGen | rs1800435 |
| ebi | rs1800435 |
| HLI | rs1800435 |
| Exac | rs1800435 |
| Gnomad | rs1800435 |
| Varsome | rs1800435 |
| LitVar | rs1800435 |
| Map | rs1800435 |
| PheGenI | rs1800435 |
| Biobank | rs1800435 |
| 1000 genomes | rs1800435 |
| hgdp | rs1800435 |
| ensembl | rs1800435 |
| geneview | rs1800435 |
| scholar | rs1800435 |
| rs1800435 | |
| pharmgkb | rs1800435 |
| gwascentral | rs1800435 |
| openSNP | rs1800435 |
| 23andMe | rs1800435 |
| SNPshot | rs1800435 |
| SNPdbe | rs1800435 |
| MSV3d | rs1800435 |
| GWAS Ctlg | rs1800435 |
| GMAF | 0.04683 |
| Max Magnitude | 3 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19686844] Lead and cognitive function in ALAD genotypes in the third National Health and Nutrition Examination Survey
| ClinVar | |
|---|---|
| Risk | rs1800435(C;C) |
| Alt | rs1800435(C;C) |
| Reference | Rs1800435(G;G) |
| Significance | Pathogenic |
| Disease | AMINOLEVULINATE DEHYDRATASE Porphobilinogen synthase deficiency |
| Variation | info |
| Gene | ALAD |
| CLNDBN | AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM Porphobilinogen synthase deficiency |
| Reversed | 1 |
| HGVS | NC_000009.11:g.116153891C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018360.2, RCV000371179.1, |
[PMID 18569569] Lack of association of delta-aminolevulinate dehydratase polymorphisms with blood lead levels and hemoglobin in Romanian women from a lead-contaminated region.
[PMID 18639233
] An association analysis of murine anxiety genes in humans implicates novel candidate genes for anxiety disorders.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19165391] Iron metabolism genes, low-level lead exposure, and QT interval.
[PMID 20798009] Comparison of occupational exposure assessment methods in a case-control study of lead, genetic susceptibility and risk of adult brain tumours.
[PMID 21439310] delta-Aminolevulinic acid dehydratase genotype predicts toxic effects of lead on workers' peripheral nervous system.
[PMID 24156693] Influence of delta-aminolevulinic Acid dehydratase gene polymorphism on selected lead exposure biomarkers in a cohort of ex-smelter workers
[PMID 22925625] Inverse association of intellectual function with very low blood lead but not with manganese exposure in Italian adolescents.
[PMID 26103685] No ALAD Polymorphism in Bank Vole Populations from Unpolluted and Lead-Zinc Polluted Areas in Poland
[PMID 28276576] Delta-amino-levulinic acid dehydratase gene and essential tremor.
[PMID 31302530] Toxicological effects in children exposed to lead: A cross-sectional study at the Colombian Caribbean coast.
