rs28939086
A SNP in the SLC26A4 gene on chromosome 7. Its most notable genotype is C;C: Pendred Syndrome
- Gene
- SLC26A4
- Location
- Chr 7107,690,220 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;CBadCarrier of a Pendred Syndrome mutation
- C;CMost notableBadPendred Syndrome
On SNPedia: (A;A), (A;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other SLC26A4 SNPs
- i5000002G;GPendred SyndromeVery important
- i5000003G;GPendred SyndromeVery important
- i5000693T;TPendred SyndromeVery important
- i5000696G;GPendred SyndromeVery important
- rs80338848C;CPendred SyndromeVery important
- rs111033199T;TPendred SyndromeVery important
- rs111033212C;CPendred Syndrome (deafness)Very important
- rs111033220T;TPendred syndrome (hearing loss)Very important
Notes
From SNPedia
Notes
rs28939086, also known as c.1246A>C, p.Thr416Pro or T416P, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.
A;C
Unaffected in absence of a second SLC26A4 gene mutation
Source and license
Adapted from rs28939086 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.