rs111033220
A SNP in the SLC26A4 gene on chromosome 7. Its most notable genotype is T;T: Pendred syndrome (hearing loss)
- Gene
- SLC26A4
- Location
- Chr 7107,690,203 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TBadCarrier of a mutation for Pendred syndrome (hearing loss)
- T;TMost notableBadPendred syndrome (hearing loss)
On SNPedia: (C;C), (C;T), (T;T). 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
- rs28939086C;CPendred SyndromeVery important
- rs80338848C;CPendred SyndromeVery important
- rs111033199T;TPendred SyndromeVery important
- rs111033212C;CPendred Syndrome (deafness)Very important
Notes
From SNPedia
Notes
rs111033220, also known as c.1229C>T, p.Thr410Met and T410M, represents a rare mutation in the SLC26A4 gene. Inherited recessively, this variant is considered pathogenic for Pendred Syndrome, manifest as hearing loss and enlarged vestibular aqueduct syndrome.
C;T
Unaffected in absence of another SLC26A4 gene mutation; see rs111033220
T;T
see rs111033220
Source and license
Adapted from rs111033220 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.