Rs12021720

Two SNPedia users have self reported the (T;T) genotype with no apparent consequences. It was first noted in a patient with documented in omim. A Japanese patient with the intermediate form of maple syrup urine disease 2 showed a compound heterozygote for both
 * the apparently causative C->G transversion at nucleotide 309 DBT gene (I37M)
 * this G->A transition in exon 9 (G323S) which with no obvious consequences


 * is_associated_with_disease::Maple syrup urine disease