Thursday, July 12, 2018

Chromosome 9: Rare and Uncommon Variants

I found a few rare and uncommon variants tested for by 23andme on Chromosome 9.

ABCA1 rs9282541 with an MAF of 0.006 is a missense, nc transcript variant but deemed benign according to dbSNP.

GLIS3 rs10974342 MAF = 0.0134 is an intron variant, and not deemed deleterious so far.

SI Joint Pain and Bursitis in both Hips

It looks like 23andme does not test for enough markers relating to psoriatic arthritis and ankylosing spondylitis.  I recently developed wha...