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rs1800435

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1800435(C;C)
Make rs1800435(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position113391611
GeneALAD
is asnp
is mentioned by
dbSNPrs1800435
ebirs1800435
HLIrs1800435
Exacrs1800435
Varsomers1800435
Maprs1800435
PheGenIrs1800435
hapmaprs1800435
1000 genomesrs1800435
hgdprs1800435
ensemblrs1800435
gopubmedrs1800435
geneviewrs1800435
scholarrs1800435
googlers1800435
pharmgkbrs1800435
gwascentralrs1800435
openSNPrs1800435
23andMers1800435
23andMe allrs1800435
SNP Nexus

SNPshotrs1800435
SNPdbers1800435
MSV3drs1800435
GWAS Ctlgrs1800435
GMAF0.04683
Max Magnitude0
? (C;C) (C;G) (G;G) 28
OMIM125270
DescAMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM
Variant0003
Relatedalso


[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
Variation info
Gene ALAD
CLNDBN AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM
Reversed 1
HGVS NC_000009.11:g.116153891C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018360.2,



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


[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 19165391OA-icon.png] Iron metabolism genes, low-level lead exposure, and QT interval.


[PMID 20798009OA-icon.png] 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.


GET Evidence
ALAD-K68N
aa_change Lys68Asn
aa_change_short K68N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0546875
summary



[PMID 24156693] Influence of delta-aminolevulinic Acid dehydratase gene polymorphism on selected lead exposure biomarkers in a cohort of ex-smelter workers


[PMID 22925625OA-icon.png] 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