rs35887622
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal hearing |
| (A;C) | 3 | Carrier of a recessive deafness mutation |
| (A;G) | 3 | Variant of unclear significance wrt deafness |
| (G;G) | 3 | Variant of unclear significance wrt deafness |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 20189481 |
| Gene | GJB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35887622 |
| dbSNP (classic) | rs35887622 |
| ClinGen | rs35887622 |
| ebi | rs35887622 |
| HLI | rs35887622 |
| Exac | rs35887622 |
| Gnomad | rs35887622 |
| Varsome | rs35887622 |
| LitVar | rs35887622 |
| Map | rs35887622 |
| PheGenI | rs35887622 |
| Biobank | rs35887622 |
| 1000 genomes | rs35887622 |
| hgdp | rs35887622 |
| ensembl | rs35887622 |
| geneview | rs35887622 |
| scholar | rs35887622 |
| rs35887622 | |
| pharmgkb | rs35887622 |
| gwascentral | rs35887622 |
| openSNP | rs35887622 |
| 23andMe | rs35887622 |
| SNPshot | rs35887622 |
| SNPdbe | rs35887622 |
| MSV3d | rs35887622 |
| GWAS Ctlg | rs35887622 |
| GMAF | 0.009642 |
| Max Magnitude | 3 |
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 [PMID 9139825]
[PMID 9422505] Connexin mutations and hearing loss.
[PMID 9529365
] Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
[PMID 9716127] Connexin mutations in deafness.
[PMID 10903123] Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.
[PMID 11134236] Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
[PMID 16380907] GJB2 mutations and degree of hearing loss: a multicenter study.
[PMID 17935238] M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
[PMID 17666888] A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
