rs45517258

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

Gene
TSC2
Location
Chr 162,076,141 (GRCh38)
Highest magnitude
5.0Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;GBadTuberous sclerosisVery important · 4.0
  3. C;TBadTuberous sclerosisVery important · 4.0
  4. T;TMost notableBadTuberous sclerosisVery important · 5.0

On SNPedia: (C;C), (C;G), (C;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

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

C;G

Tuberous sclerosis

C;T

Tuberous sclerosis

T;T

Tuberous sclerosis

Source and license

Adapted from rs45517258 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.