rs80338917

A SNP in the TFAP2B gene on chromosome 6. Its most notable genotype is C;T: Char Syndrome.

Gene
TFAP2B
Location
Chr 650,838,051 (GRCh38)
Highest magnitude
6.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodNormal, no Char Syndrome mutation here.Typical · 0.1
  2. C;TMost notableBadChar Syndrome.Very important · 6.0
  3. T;TBadChar Syndrome.Very important · 6.0

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

Other TFAP2B SNPs

All TFAP2B SNPs

Notes

From SNPedia

Notes

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.

Source and license

Adapted from rs80338917 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.