rs35887622
A SNP in the GJB2 gene on chromosome 13. Its most notable genotype is A;C: Carrier of a recessive deafness mutation
- Gene
- GJB2
- Location
- Chr 1320,189,481 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodnormal hearing
- A;CMost notableBadCarrier of a recessive deafness mutation
- A;GBadVariant of unclear significance wrt deafness
- G;GBadVariant of unclear significance wrt deafness
On SNPedia: (A;A), (A;C), (A;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
- rs80338939-;-deafness associatedVery important
- rs80338942-;-deafness associatedVery important
- rs80338943-;-deafness associatedVery important
Notes
From SNPedia
Show notes, about 210 words
rs35887622 represents a relatively frequent variant that was originally reported to be associated with a recessive form of deafness, however more recent reports indicate that is likely to either be benign, or, perhaps, associated with mild hearing impairment, possibly of relatively late onset and progression. A discussion of this variant can be found at OMIM 121011.0001. hereditary non-syndromic sensorineural deafness Connexin mutations and hearing loss. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Connexin mutations in deafness. Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. GJB2 mutations and degree of hearing loss: a multicenter study. M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
A;C
see GJB2 and deafness
A;G
see discussion at rs35887622
G;G
see discussion at rs35887622
Source and license
Adapted from rs35887622 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.