rs371100799

A SNP in the CLDN14 gene on chromosome 21. Its most notable genotype is T;T: Deafness; early-onset (prelingual)

Gene
CLDN14
Location
Chr 2136,461,529 (GRCh38)
Highest magnitude
6.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TBadCarrier of a deafness mutationImportant · 3.0
  3. T;TMost notableBadDeafness; early-onset (prelingual)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.

Conditions, medicines and genes

Other CLDN14 SNPs

All CLDN14 SNPs

Notes

From SNPedia

Notes

rs371100799, also known as c.167G>A, p.Trp56Ter and W56*, represents a variant in the CLDN14 gene on chromosome 21. Inherited in a recessive manner, the minor allele of this SNP is considered pathogenic for a form of deafness; see OMIM and ClinVar sidebars for details.

C;T

Unaffected in absence of a second mutation; see rs371100799.

T;T

see rs371100799

Source and license

Adapted from rs371100799 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.