rs863223797

A SNP in the TGFB2 gene on chromosome 1. Its most notable genotype is -;C: Thoracic aortic aneurysm (potential causative mutation)

Gene
TGFB2
Location
Chr 1218,405,178 (GRCh38)
Highest magnitude
7.7Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;CMost notableBadThoracic aortic aneurysm (potential causative mutation)Very important · 7.7
  2. C;CGoodcommon in clinvarTypical · 0.0

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

Other TGFB2 SNPs

All TGFB2 SNPs

Notes

From SNPedia

Notes

aka c.356delC (p.Pro119Argfs) Denoted as pathogenic in ClinVar, based on GeneDx information. Independently, in , along with one other 'suspicious' mutation, rs757309797, this mutation was observed in the genome of an otherwise healthy young adult who died suddenly.

-;C

see discussion at rs863223797

Source and license

Adapted from rs863223797 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.