rs80338949
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a recessive deafness mutation |
| Make rs80338949(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 20189095 |
| Gene | GJB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338949 |
| dbSNP (classic) | rs80338949 |
| ClinGen | rs80338949 |
| ebi | rs80338949 |
| HLI | rs80338949 |
| Exac | rs80338949 |
| Gnomad | rs80338949 |
| Varsome | rs80338949 |
| LitVar | rs80338949 |
| Map | rs80338949 |
| PheGenI | rs80338949 |
| Biobank | rs80338949 |
| 1000 genomes | rs80338949 |
| hgdp | rs80338949 |
| ensembl | rs80338949 |
| geneview | rs80338949 |
| scholar | rs80338949 |
| rs80338949 | |
| pharmgkb | rs80338949 |
| gwascentral | rs80338949 |
| openSNP | rs80338949 |
| 23andMe | rs80338949 |
| SNPshot | rs80338949 |
| SNPdbe | rs80338949 |
| MSV3d | rs80338949 |
| GWAS Ctlg | rs80338949 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs80338949(C;C) rs80338949(G;G) |
| Alt | rs80338949(C;C) rs80338949(G;G) |
| Reference | Rs80338949(A;A) |
| Significance | Pathogenic |
| Disease | Deafness not specified |
| Variation | info |
| Gene | GJB2 |
| CLNDBN | Deafness, autosomal recessive 1A not specified Deafness, autosomal dominant 3a |
| Reversed | 1 |
| HGVS | NC_000013.10:g.20763234T>C; NC_000013.10:g.20763234T>G |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020573.2, RCV000037860.3, RCV000487480.1, |
[PMID 16380907
] GJB2 mutations and degree of hearing loss: a multicenter study.
[PMID 15964] Clinical pharmacology of adrenergic beta-receptor blocking drugs.
[PMID 11493200] Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.
[PMID 12189487] Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.
[PMID 12872268] The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.
[PMID 14643477] GJB2 gene mutations causing familial hereditary deafness in Turkey.
[PMID 17041943] DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
