rs74315437
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | Deafness; early-onset (prelingual) |
| (A;T) | 3 | Carrier of a deafness mutation |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 36461442 |
| Gene | CLDN14, LOC105369301 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315437 |
| dbSNP (classic) | rs74315437 |
| ClinGen | rs74315437 |
| ebi | rs74315437 |
| HLI | rs74315437 |
| Exac | rs74315437 |
| Gnomad | rs74315437 |
| Varsome | rs74315437 |
| LitVar | rs74315437 |
| Map | rs74315437 |
| PheGenI | rs74315437 |
| Biobank | rs74315437 |
| 1000 genomes | rs74315437 |
| hgdp | rs74315437 |
| ensembl | rs74315437 |
| geneview | rs74315437 |
| scholar | rs74315437 |
| rs74315437 | |
| pharmgkb | rs74315437 |
| gwascentral | rs74315437 |
| openSNP | rs74315437 |
| 23andMe | rs74315437 |
| SNPshot | rs74315437 |
| SNPdbe | rs74315437 |
| MSV3d | rs74315437 |
| GWAS Ctlg | rs74315437 |
| Max Magnitude | 6 |
rs74315437, also known as c.254T>A, p.Val85Asp and V85D, 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 | Rs74315437(A;A) |
| Alt | Rs74315437(A;A) |
| Reference | Rs74315437(T;T) |
| Significance | Pathogenic |
| Disease | Deafness Perrault Syndrome Hearing impairment |
| Variation | info |
| Gene | CLDN14 |
| CLNDBN | Deafness, autosomal recessive 29 Perrault Syndrome Hearing impairment |
| Reversed | 1 |
| HGVS | NC_000021.8:g.37833740A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005124.3, RCV000417144.1, RCV000417186.1, |
