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SNP information rs182650126

RS182650126

Normal allele: TT

SCN9A mutation associated with idiopathic small fibre neuropathy.

Polymorphism rs182650126 is related to topics like this:

Hereditary polyneuropathy

The peripheral nervous system is affected by a diverse range of diseases known as hereditary...

Research and publications:

  19763161   A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

  21698661   Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.

  22826602   Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy.

  24820863   Paroxysmal itch caused by gain-of-function Nav1.7 mutation.

  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.

  27301361   Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.

Melanoma genes

The incidence of malignant melanoma (MM) is rising sharply, making it one of the most aggressive...

Genetic testing for cancer

Medical tests are employed to detect specific changes or mutations in an individual's genes and...

Colorectal cancer genes

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

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