Upload the DNA data file of the test

23andMe, AncestryDNA, FamilyTreeDNA, MyHeritage

and get an enhanced
personalized health report
free without registration

Files accepted .txt, .csv, .zip, .csv.gz

File data is not stored on the server

SNP information rs11214077

RS11214077

Normal allele: AA

Mutation of SDHD, a mitochondrial complex II gene increases the likelihood of paraganglioma disease.

Polymorphism rs11214077 is related to topics like this:

Mitochondria dna

The mitochondria contain circular chromosomes known as mitochondrial DNA and are organelles...

Research and publications:

  12007193   Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas.

  12111639   Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

  12386824   Absence of somatic SDHD mutations in sporadic neuroendocrine tumors and detection of two germline variants in paraganglioma patients.

  18678321   Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

  21979946   Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.

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

  24297550   PATH-SCAN: a reporting tool for identifying clinically actionable variants.

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

  25694510   Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer.

  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.

  28634180   A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.

Diseases genetic

Human genetic illnesses stem from mutations in one or more genes and can be classified as occurring...

Type 2 diabetes genetic

Type 2 diabetes is the most prevalent and impactful subtype of diabetes worldwide, affecting around...

INSR Gene Insulin Receptor

The gene known as INSR directs the production of insulin receptors - proteins present in various...

List of all diseases
en
|
de
|
fr
|
es
|
it
|
ua
|
ru

About

Documents

Support