autism dna markers

[mellowtigger]

Just filing this link away for later use.  I still need to update my genetic risk review from more than a decade ago.

This SPARK list includes both CNVs (copy number variations) and SNPs (single nucleotide polymorphisms).
https://d2dxtcm9g2oro2.cloudfront.net/wp-content/uploads/2020/07/13153839/SPARK_gene_list_July2020.pdf 
(and archive, just in case of deletion)

I used the 23andme.com website for my genetic testing, long ago.  They do not test CNVs, but they do test SNPs ("snips"), but only if their device just happens to include those genetic addresses on it.  I'm sure the new microchips are more accurate and have a wider variety than before, but... I'd want to check on that before paying for more tests.  And I'm not sure if they're allowed to provide direct access to data any more.  The U.S. federal government intervened a while back on this point.  I would need access to that raw data to complete my own comparison.

Comments

[darkoshi]

I also used 23andme long ago. I tried to do their chip upgrade last year but had some problem; might still try it again some day.

On the 2009 entry you linked, the "confusion" or "translation" you mentioned may be due to this:
https://www.snpedia.com/index.php/Orientation
https://customercare.23andme.com/hc/en-us/articles/212883677-How-23andMe-Reports-Genotypes (see part about "strandedness")
See also: https://www.snpedia.com/index.php/Ambiguous_flip

A while back I had looked up my SNPs related to celiac disease and gluten tolerance, and had the same kind of confusion. I also had a problem where different webpages had conflicting info on which alleles were the normal ones vs the risk factor ones, and didn't know which were correct.