i4000435
A SNP in the GJB2 gene on chromosome 13. Its most notable genotype is D;D: deafness-associated
- Gene
- GJB2
- Location
- Chr 1320,763,554 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- D;DMost notableBaddeafness-associated
- D;IBadcarrier for deafness-associated variant
- I;IGoodNo summary available.
On SNPedia: (D;D), (D;I), (I;I). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other GJB2 SNPs
- 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
- rs80338943-;-deafness associatedVery important
- rs104894404C;TNonsyndromic hearing loss and deafnessVery important
Notes
From SNPedia
Notes
Hearing loss? Connexin 26-Related Nonsyndromic Sensorineural Hearing Loss rs80338942
D;D
Homozygosity for one of the most common deafness-associated variants in Ashkenazi Jewish populations.
D;I
This SNP represents one of the most common deafness associated variants in Ashkenazi Jewish populations.
Source and license
Adapted from i4000435 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.