rs80338939
A SNP in the GJB2 gene on chromosome 13. Its most notable genotype is -;-: deafness associated
- Gene
- GJB2
- Location
- Chr 1320,189,547 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;-Most notableBaddeafness associated
- -;CBadcarrier of most common deafness-associated variant in Caucasians
- C;CGoodcommon in clinvar
SNPedia records rs80338939 on the minus strand: (-;-), (-;G), (G;G). 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
- rs80338942-;-deafness associatedVery important
- rs80338943-;-deafness associatedVery important
- rs104894404C;TNonsyndromic hearing loss and deafnessVery important
Notes
From SNPedia
Notes
rs80338939, also known as 35delG or in some cases 30delG, is a SNP in the GJB2 gene. This variant is the most common one associated (when present in two copies) with autosomal recessive nonsyndromic hearing loss, i.e. deafness. Note: In 23andMe data, this SNP is referred to as i4000434.
-;-
Autosomal recessive nonsyndromic hearing loss; highest frequency in non-Jewish Europeans. See GJB2 and deafness
-;C
Unaffected carrier for a single allele associated (only when present in two copies) with deafness.
Source and license
Adapted from rs80338939 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.