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SNP information rs4986854

RS4986854

Normal allele: AA

Polymorphism rs4986854 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:

  7627958   Germline mutation of BRCA1 in Japanese breast cancer families.

  9544766   BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history.

  15350310   The effects of BRCA1 missense variants V1804D and M1628T on transcriptional activity.

  15689452   Classification of BRCA1 missense variants of unknown clinical significance.

  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.

  17308087   Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

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

  21356067   Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

  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.

  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.

DNA diet

The DNA Diet report is tailored to assist with weight management by offering personalized diet and...

Keto genetics

The KD, a diet low in carbohydrates and high in fat and protein, has been shown to effectively...

Low calorie diet genetic

Dieters can determine which diet would result in more weight loss by undergoing a genetic test,...

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