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SNP information rs55716624

RS55716624

Normal allele: CC

Polymorphism rs55716624 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:

  10882858   Incidence of BRCA1/2 germ line alterations in a high risk cohort participating in a phase II chemoprevention trial.

  11030417   Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer.

  16550498   Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition gene BRCA2.

  17924331   A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

  18414213   ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

  19043619   Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

  22034289   High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.

  22505045   Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

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

  22711857   BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group.

  22874498   Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.

  23633455   Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations.

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

  24055113   Actionable, pathogenic incidental findings in the exomes of 1000 participants.

  25637381   Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

  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.

  25782689   Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases.

  26295337   Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

  26467025   A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

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