rs80338942
A SNP in the GJB2 gene on chromosome 13. Its most notable genotype is -;-: deafness associated
- Gene
- GJB2
- Location
- Chr 1320,189,415 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;-Most notableBaddeafness associated
- -;ABadcarrier of deafness-associated variant
- A;AGoodcommon in clinvar
SNPedia records rs80338942 on the minus strand: (-;-), (-;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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
- rs80338943-;-deafness associatedVery important
- rs104894404C;TNonsyndromic hearing loss and deafnessVery important
Notes
From SNPedia
Notes
Known as 167delT, this is the most common nonsyndromic recessive deafness-associated SNP in Ashkenazi Jewish populations. rs80338942 is designated as I4000435 by 23andMe.
-;-
Homozygosity for one of the most common deafness-associated variants in Ashkenazi Jewish populations.
-;A
This variant is one of the most common deafness-associated variants in Ashkenazi Jewish populations.
Source and license
Adapted from rs80338942 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.