rs28931594
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | Deafness and keratitis; possible dominant or recessive |
| (A;G) | 6 | Deafness and keratitis; possible dominant or recessive |
| (G;G) | 0 | common in clinvar |
| (G;T) | 6 | Deafness and keratitis; possible dominant or recessive |
| (T;T) | 6 | Deafness and keratitis; possible dominant or recessive |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 20189434 |
| Gene | GJB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28931594 |
| dbSNP (classic) | rs28931594 |
| ClinGen | rs28931594 |
| ebi | rs28931594 |
| HLI | rs28931594 |
| Exac | rs28931594 |
| Gnomad | rs28931594 |
| Varsome | rs28931594 |
| LitVar | rs28931594 |
| Map | rs28931594 |
| PheGenI | rs28931594 |
| Biobank | rs28931594 |
| 1000 genomes | rs28931594 |
| hgdp | rs28931594 |
| ensembl | rs28931594 |
| geneview | rs28931594 |
| scholar | rs28931594 |
| rs28931594 | |
| pharmgkb | rs28931594 |
| gwascentral | rs28931594 |
| openSNP | rs28931594 |
| 23andMe | rs28931594 |
| SNPshot | rs28931594 |
| SNPdbe | rs28931594 |
| MSV3d | rs28931594 |
| GWAS Ctlg | rs28931594 |
| Max Magnitude | 6 |
This variant has been reported for both recessive and dominant forms of both deafness and keratitis-ichthyosis-deafness syndrome.
Note that there are two variants known at this locus: c.148G>A (Asp50Asn or D50N) and c.148G>T (Asp50Tyr or D50Y). The D50N form is the one primarily discussed in OMIM and the literature, and is also the form tested by 23andMe under their "secret" name, i6011365. The D50Y form is cited in ClinVar, referencing OMIM but not actually discussed there.
| ClinVar | |
|---|---|
| Risk | Rs28931594(A;A) Rs28931594(T;T) |
| Alt | Rs28931594(A;A) Rs28931594(T;T) |
| Reference | Rs28931594(G;G) |
| Significance | Pathogenic |
| Disease | Keratitis-ichthyosis-deafness syndrome Hystrix-like ichthyosis with deafness Deafness not provided |
| Variation | info |
| Gene | GJB2 |
| CLNDBN | Keratitis-ichthyosis-deafness syndrome, autosomal dominant Hystrix-like ichthyosis with deafness Deafness, autosomal recessive 1A not provided |
| Reversed | 1 |
| HGVS | NC_000013.10:g.20763573C>A; NC_000013.10:g.20763573C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018556.24, RCV000018546.29, RCV000018547.29, RCV000175764.1, RCV000412852.1, |
