rs80338942
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 6 | deafness associated |
| (-;T) | 3 | carrier of deafness-associated variant |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 20189415 |
| Gene | GJB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338942 |
| dbSNP (classic) | rs80338942 |
| ClinGen | rs80338942 |
| ebi | rs80338942 |
| HLI | rs80338942 |
| Exac | rs80338942 |
| Gnomad | rs80338942 |
| Varsome | rs80338942 |
| LitVar | rs80338942 |
| Map | rs80338942 |
| PheGenI | rs80338942 |
| Biobank | rs80338942 |
| 1000 genomes | rs80338942 |
| hgdp | rs80338942 |
| ensembl | rs80338942 |
| geneview | rs80338942 |
| scholar | rs80338942 |
| rs80338942 | |
| pharmgkb | rs80338942 |
| gwascentral | rs80338942 |
| openSNP | rs80338942 |
| 23andMe | rs80338942 |
| SNPshot | rs80338942 |
| SNPdbe | rs80338942 |
| MSV3d | rs80338942 |
| GWAS Ctlg | rs80338942 |
| Max Magnitude | 6 |
Known as 167delT, this is the most common nonsyndromic recessive deafness-associated SNP in Ashkenazi Jewish populations.
rs80338942 is designated as I4000435 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs80338942(-;-) |
| Alt | Rs80338942(-;-) |
| Reference | Rs80338942(T;T) |
| Significance | Pathogenic |
| Disease | Deafness Hearing impairment Nonsyndromic hearing loss and deafness not provided Mutilating keratoderma Nonsyndromic Hearing Loss Nonsyndromic Hearing Loss Keratitis-Ichthyosis-Deafness Syndrome Hystrix-like ichthyosis with deafness Keratitis-ichthyosis-deafness syndrome Keratoderma palmoplantar deafness Knuckle pads |
| Variation | info |
| Gene | GJB2 |
| CLNDBN | Deafness, autosomal recessive 1A Hearing impairment Nonsyndromic hearing loss and deafness not provided Mutilating keratoderma Nonsyndromic Hearing Loss, Dominant Nonsyndromic Hearing Loss, Recessive Keratitis-Ichthyosis-Deafness Syndrome Hystrix-like ichthyosis with deafness Deafness, autosomal dominant 3a Keratitis-ichthyosis-deafness syndrome, autosomal dominant Keratoderma palmoplantar deafness Knuckle pads, deafness AND leukonychia syndrome |
| Reversed | 1 |
| HGVS | NC_000013.10:g.20763554delA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018534.32, RCV000146010.1, RCV000211757.1, RCV000255988.1, RCV000291910.1, RCV000307189.1, RCV000346888.1, RCV000392353.1, RCV000392361.1, RCV000409300.1, RCV000477920.1, |
[PMID 9819448] Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.
[PMID 10903123
] Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.
[PMID 110744] Hydroxyurea or placebo combined with radiation to treat stages IIIB and IV cervical cancer confined to the pelvis.
[PMID 10508996] High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim.
[PMID 10982182] The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.
[PMID 11386851] Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews.
[PMID 11668644] A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.
