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SNP information rs1801249

RS1801249

Normal allele: GG

Polymorphisms associated with Wilson's disease. Wilson's disease is an inherited disorder in which excess copper is stored in the body.

Polymorphism rs1801249 is related to topics like this:

Wilson disease gene

Wilson's disease is an autosomal recessive condition, necessitating that both parents carry at...

Research and publications:

  7626145   The Wilson disease gene: spectrum of mutations and their consequences.

  9887381   His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.

  14966923   Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.

  22950421   Linkage disequilibrium and haplotype analysis of the ATP7B gene in Alzheimer's disease.

  23757202   Free the data: one laboratory's approach to knowledge-based classification of genomic variants and preparation for integration of genomic data into EMR.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  27398169   Mutational analysis of ATP7B in Chinese Wilson disease patients.

  29540233   Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report.

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