Looks like the main SNP in consideration is: https://www.snpedia.com/index.php/Rs1990622. Anyone see the particular allele value that increases risk? My guess (looking at some genetic family data) is if you having an "A" instead of a "G" is the mutation - can anyone confirm?
The mutations found are in the protein TDP-43 [1]. This protein is also involved in ALS. It appears to be a regulatory DNA-binding protein. The protein also helps splice the mRNA of CFTR - the cystic fibrosis transmembrane conductance regulator.
Looks like that's it: "We identified 2 coding variants: one rare variant which was observed in a single control (c.401G>A; p.S134N) and one common variant (rs3173615, pT185S)." (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3034409/)
I hope someone who understands the article can offer an explanation about whether it's possible to use the 23andme data to speculate about one's own susceptibility to this.
