I came across some mutations that I found interesting:
I've got a little info regarding those genes and associated diseases below, but it depends on the specific SNP ("rs" number) which is mutated to determine if it can cause a disease. Most info comes from
https://omim.org or wikipedia.
This gene controls the release of calcium in skeletal muscles. It can cause disease when heterozygous, namely Central Core Disease and/or Congenital Neuromuscular Diseases with Uniform Type 1 Fiber.
Central Core Disease can hit at any age, and generally isn't progressive. Symptoms include proximal muscle weakness and skeletal problems (hip dislocation, scoliosis). It's diagnosed with a muscle biopsy.
Mutations in this gene can cause childhood cancers. The "(1)", presumably a BLOSUM62 score, would mean that your particular mutation isn't particularly likely to cause problems with the gene.
This gene can cause Iminoglycinuria, the excessive excretion of several amino acids, though a mutation scoring 0 isn't too likely to be a problem. It often doesn't cause any problems, thought might (theoretically?) be associated with some problems, the only relevant one being rather vague encephalopathy.
This is a glycine transporter, but there's no obvious indications of associated diseases.
Some mutations on this gene can cause skin or eye problems when heterozygous. It can also result in familial pseudohyperkalemia, where stored blood samples will leak excess potassium, and might result in the appearance of a medical problem in lab samples which isn't really occurring in the body.
These gene can cause Pseudoxanthoma elasticum, but usually only if the mutation is homozygous. Symptoms typically involve the skin and/or eyes.
Little is known about this gene.
Little is known about this gene. Does something in testicles, so probably not relevant.
This gene is involved in Complex I of the mitochondrial respiratory chain. Disruption to Complex 1 in mitochondrial DNA can cause diseases with symptoms very similar to ME/CFS. Assuming the -4 is the BLOSUM62 score, this must be a stop-gain nonsense mutation, which results in premature termination of the protein created by the gene, making it incomplete. Hence it could have a very big effect, depending on where the mutation is on the gene. There has been little research into this gene, so no mutations seem to have been flagged as pathogenic thus far.
For more information, include the "rs" numbers!
