rs80338944
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a recessive deafness mutation |
| (G;G) | 0 | common in clinvar |
| Make rs80338944(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 20189351 |
| Gene | GJB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338944 |
| dbSNP (classic) | rs80338944 |
| ClinGen | rs80338944 |
| ebi | rs80338944 |
| HLI | rs80338944 |
| Exac | rs80338944 |
| Gnomad | rs80338944 |
| Varsome | rs80338944 |
| LitVar | rs80338944 |
| Map | rs80338944 |
| PheGenI | rs80338944 |
| Biobank | rs80338944 |
| 1000 genomes | rs80338944 |
| hgdp | rs80338944 |
| ensembl | rs80338944 |
| geneview | rs80338944 |
| scholar | rs80338944 |
| rs80338944 | |
| pharmgkb | rs80338944 |
| gwascentral | rs80338944 |
| openSNP | rs80338944 |
| 23andMe | rs80338944 |
| SNPshot | rs80338944 |
| SNPdbe | rs80338944 |
| MSV3d | rs80338944 |
| GWAS Ctlg | rs80338944 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs80338944(A;A) |
| Alt | rs80338944(A;A) |
| Reference | Rs80338944(G;G) |
| Significance | Pathogenic |
| Disease | Deafness Nonsyndromic hearing loss and deafness |
| Variation | info |
| Gene | GJB2 |
| CLNDBN | Deafness, autosomal recessive 1A Nonsyndromic hearing loss and deafness |
| Reversed | 1 |
| HGVS | NC_000013.10:g.20763490C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018524.32, RCV000211767.1, |
[PMID 9328482] Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
[PMID 16380907
] GJB2 mutations and degree of hearing loss: a multicenter study.
