rs45516293 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 11403047]

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.[PMID 23788249]

See also OMIM 191092.0011




[PMID 11403047] A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.


[PMID 17304050] Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

rs45516293

Parent Gene: TSC2

Importance: 1
Less common allele: None = None
More common allele: None = None
My Genotype: Log In
Risk Allele: C
Significance: Pathogenic