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SNP information rs2229995

RS2229995

Normal allele: GG

Polymorphism rs2229995 is related to topics like this:

Colorectal cancer genes

One of the prevalent cancer syndromes that can be inherited is colon cancer. Chromosome 2 contains...

Research and publications:

  1316610   Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.

  15122587   Definition of candidate low risk APC alleles in a Swedish population.

  15300854   RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.

  15824157   APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenoma.

  16525781   Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait.

  16650078   Novel germline mutations in the APC gene of Cypriot patients with familial and sporadic adenomatous polyposis.

  18612690   Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk.

  20233475   Germline Missense Changes in the APC Gene and Their Relationship to Disease.

  20510605   Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk.

  21752055   Extra nuchal-type fibroma associated with elastosis, traumatic neuroma, a rare APC gene missense mutation, and a very rare MUTYH gene polymorphism: a case report and review of the literature*.

  22703879   Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

  23251617   Genetic variations in the transforming growth factor beta pathway as predictors of bladder cancer risk.

  24194833   Using information interaction to discover epistatic effects in complex diseases.

  24728327   Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

  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.

  29458332   Identification of genetic variants for clinical management of familial colorectal tumors.

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

Gastrointestinal tract cancer

The occurrence of gastrointestinal (GI) tract cancers caused by genetic mutations is widespread...

Hereditary gastric cancer

Gastric cancer is the third leading cause of cancer-related deaths worldwide, with a 5-year...

Pancreas cancer genetic

Up to 15% of pancreatic cancers are attributed to gene mutations that are passed down through...

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