The gene LOC129931894, SLC19A2 (ATAC-STARR-seq lymphoblastoid silent region 1546| solute carrier family 19 member 2) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness