rs143797113

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

Gene
CLDN14
Location
Chr 2136,461,208 (GRCh38)
Highest magnitude
6.0Very important
Tested on
23andMe

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadDeafness; early-onset (prelingual)Very important · 6.0
  2. A;GBadCarrier of a deafness mutationImportant · 3.0
  3. G;GGoodcommon/normalTypical · 0.0

On SNPedia: (A;A), (A;G), (G;G). 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

rs143797113, also known as c.488C>T and p.Ala163Val, represents an uncommon variant in the CLDN14 gene on chromosome 21. Although initially reported in ClinVar as a variant of unknown significance, the minor rs143797113(A) is now published as pathogenic for an early (childhood) onset form of deafness when inherited recessively, i.e. in homozygous minor or compound heterozgyote form.

A;A

see rs143797113

A;G

Unaffected in absence of a second mutation; see rs143797113.

Source and license

Adapted from rs143797113 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.