Rs45517258

rs45517258 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 191092.0014 and OMIM 191092.0015