rs28939068

A SNP in the CST3 gene on chromosome 20. Its most notable genotype is T;T.

Gene
CST3
Location
Chr 2023,635,330 (GRCh38)
Highest magnitude
5.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadNo summary available.Very important · 5.0
  2. A;TBadNo summary available.Very important · 5.0
  3. A;AGoodcommon in clinvarTypical · 0.0

SNPedia records rs28939068 on the minus strand: (A;A), (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

Cystatin C L68Q founder mutation for Icelandic hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disease with high penetrance, manifest by brain hemorrhages in young normotensive adults. This snp has now been studied extensively. full text available from plos

T;T

Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disease with high penetrance, manifest by brain hemorrhages in young normotensive adults

A;T

Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disease with high penetrance, manifest by brain hemorrhages in young normotensive adults

Source and license

Adapted from rs28939068 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.