rs80338943
A SNP in the GJB2 gene on chromosome 13. Its most notable genotype is -;-: deafness associated
- Gene
- GJB2
- Location
- Chr 1320,189,347 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;-Most notableBaddeafness associated
- -;GBadcarrier of deafness-associated variant
- G;GGoodcommon in clinvar
SNPedia records rs80338943 on the minus strand: (-;-), (-;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 GJB2 SNPs
- i4000435D;Ddeafness-associatedVery important
- rs28929485A;GDeafness and keratitis; possible dominant or recessiveVery important
- rs28931593C;TPalmoplantar keratoderma with deafnessVery important
- rs28931594T;TDeafness and keratitis; possible dominant or recessiveVery important
- rs72561723T;TDeafness and keratitis; possible dominant or recessiveVery important
- rs80338939-;-deafness associatedVery important
- rs80338942-;-deafness associatedVery important
- rs104894404C;TNonsyndromic hearing loss and deafnessVery important
Notes
From SNPedia
Show notes, about 160 words
Also known as 235delC, this SNP in the GJB2 gene is one of the most common nonsyndromic recessive deafness-associated variants in eastern Asian populations. [Nursing and drugs: criticism of total dependence on analgesics for the treatment of pain. Reevaluation of nursing concession to the patient's request, resulting in the development of narcotic dependence]. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Prevalent connexin 26 gene (GJB2) mutations in Japanese. GJB2 mutations and degree of hearing loss: a multicenter study. The prevalence of the 235delC GJB2 mutation in a Chinese deaf population. Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
-;-
Homozygosity for one of the most common deafness-associated variants in Asian populations. see GJB2 and deafness
-;G
This variant is one of the most common deafness-associated SNPs in Asian populations.
Source and license
Adapted from rs80338943 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.