Familial defective apolipoprotein B-100 (FDB) is an autosomal dominant disorder associated with increased plasma cholesterol concentration and may thus increase the risk of premature coronary heart disease. To date, three apo B mutations, apo B R3500Q, apo B R3531C and apo B R3500W that cause defective apo B, have been reported.
I have my raw DNA data from 23andMe (where each line corresponds to a single SNP). How can I search it for those related Apo B gene mutations?
A single line in my DNA data looks like this:
rs12567639 1 756268 AA
I have a programming background, but none in the bioinformatics area.