rs45517214

A SNP in the TSC2 gene on chromosome 16. Its most notable genotype is G;T: Tuberous Sclerosis Complex

Gene
TSC2
Location
Chr 162,072,293 (GRCh38)
Highest magnitude
6.3Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GBadTuberous sclerosisVery important · 4.0
  2. G;TMost notableBadTuberous Sclerosis ComplexVery important · 6.3
  3. T;TGoodcommon in clinvarTypical · 0.0

On SNPedia: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other TSC2 SNPs

All TSC2 SNPs

Notes

From SNPedia

Notes

rs45517214 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 191092.0007 Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst. Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.

G;G

Tuberous sclerosis

Source and license

Adapted from rs45517214 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.