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SNP information rs1800704

RS1800704

Normal allele: CC

Polymorphism rs1800704 is related to topics like this:

BRCA gene

BRCA stands for "BReast CAncer gene" and refers to two distinct genes, BRCA1 and BRCA2, which have...

Research and publications:

  8776600   Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

  10196379   Germline BRCA1 alterations in a population-based series of ovarian cancer cases.

  11896095   Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals.

  15235020   Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

  15726418   BRCA1 variants in a family study of African-American and Latina women.

  15829246   Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1.

  16014699   Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.

  16267036   Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

  18415037   Incorporating the amino acid properties to predict the significance of missense mutations.

  18645608   BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases.

  21520273   Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.

  21990134   A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

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

  23867111   A high-throughput functional complementation assay for classification of BRCA1 missense variants.

  23961350   BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.

  23996866   BRCA1 gene Molecular Alterations in Omani Breast Cancer Patients.

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

  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.

  18798010   Analysis of the contribution of the BRCA1/BRCA2 genes to breast cancer susceptibility in high-risk Ashkenazi Jewish women.

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