SNP information rs213950

Research and publications:

  2236053   Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

  16436643   A haplotype framework for cystic fibrosis mutations in Iran.

  17554260   Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

  18716917   A novel computational and structural analysis of nsSNPs in CFTR gene.

  19359276   Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.

  19379518   Development of a fingerprinting panel using medically relevant polymorphisms.

  19728845   Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene.

  20116881   Cystic fibrosis transmembrane conductance regulator gene mutation and lung cancer risk.

  20565774   Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project

  22024213   A novel gene-environment interaction involved in endometriosis

  22277159   Implications for health and disease in the genetic signature of the Ashkenazi Jewish population.

  22740931   Association of CFTR gene polymorphisms with papillary thyroid cancer.

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

  24033266   A systematic approach to assessing the clinical significance of genetic variants.

  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.

  26436105   Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

  27917292   Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.

  30992994   The CFTR gene variants in Japanese children with idiopathic pancreatitis.

  31940241   The Cystic Fibrosis Transmembrane Conductance Regulator 470 Met Allele Is Associated with an Increased Risk of Chronic Pancreatitis in Both Asian and Caucasian Populations: A Meta-Analysis.

  32143663   Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador.

  32447501   Genetic markers for treatment-related pancreatitis in a cohort of Hispanic children with acute lymphoblastic leukemia.

  34274970   WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas.

  35313924   Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

  35430640   Occurrence of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Patients with Allergic Bronchopulmonary Aspergillosis Complicating Asthma.