Rs45515894

rs45515894 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.

See also OMIM 191092.0017

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.