rs72474224
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 1320,189,473 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;CMost notableBadCarrier of a recessive deafness mutation
- C;CGoodcommon in clinvar
- C;TBadCarrier of a recessive deafness mutation
On SNPedia: (A;C), (C;C), (C;T). 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
Notes
rs72474224 represents two variants at a position in the GJB2 gene on chromosome 13; they are c.109G>A (p.Val37Ile), for which the minor allele is rs72474224(T) in dbSNP/SNPedia orientation, and c.109G>T (p.Val37Phe), for which the minor allele is rs72474224(A) in dbSNP/SNPedia orientation. Both minor allele are considered pathogenic in ClinVar and in the Deafness Variation Database (DVD) for recessively inherited forms of deafness.
A;C
see rs72474224, GJB2 and deafness
C;T
see GJB2 and deafness
Source and license
Adapted from rs72474224 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.