rs368027306
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a deafness mutation |
| (T;T) | 6 | Deafness; early-onset (prelingual) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 21 |
| Position | 36461454 |
| Gene | CLDN14, LOC105369301 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs368027306 |
| dbSNP (classic) | rs368027306 |
| ClinGen | rs368027306 |
| ebi | rs368027306 |
| HLI | rs368027306 |
| Exac | rs368027306 |
| Gnomad | rs368027306 |
| Varsome | rs368027306 |
| LitVar | rs368027306 |
| Map | rs368027306 |
| PheGenI | rs368027306 |
| Biobank | rs368027306 |
| 1000 genomes | rs368027306 |
| hgdp | rs368027306 |
| ensembl | rs368027306 |
| geneview | rs368027306 |
| scholar | rs368027306 |
| rs368027306 | |
| pharmgkb | rs368027306 |
| gwascentral | rs368027306 |
| openSNP | rs368027306 |
| 23andMe | rs368027306 |
| SNPshot | rs368027306 |
| SNPdbe | rs368027306 |
| MSV3d | rs368027306 |
| GWAS Ctlg | rs368027306 |
| Max Magnitude | 6 |
rs368027306, also known as c.242G>A, p.Arg81His and R81H, represents a variant in the CLDN14 gene on chromosome 21.
Inherited in a recessive manner, the minor allele of this SNP is considered pathogenic for a form of deafness; see OMIM and ClinVar sidebars for details.
| ClinVar | |
|---|---|
| Risk | Rs368027306(T;T) |
| Alt | Rs368027306(T;T) |
| Reference | Rs368027306(C;C) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | CLDN14 |
| CLNDBN | Deafness, autosomal recessive 29 |
| Reversed | 0 |
| HGVS | NC_000021.8:g.37833752C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000169747.3, |
