rs786204841
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | Deafness; early-onset (prelingual) |
| (A;G) | 3 | Carrier of a deafness mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 21 |
| Position | 36461002 |
| Gene | CLDN14, LOC105369301 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786204841 |
| dbSNP (classic) | rs786204841 |
| ClinGen | rs786204841 |
| ebi | rs786204841 |
| HLI | rs786204841 |
| Exac | rs786204841 |
| Gnomad | rs786204841 |
| Varsome | rs786204841 |
| LitVar | rs786204841 |
| Map | rs786204841 |
| PheGenI | rs786204841 |
| Biobank | rs786204841 |
| 1000 genomes | rs786204841 |
| hgdp | rs786204841 |
| ensembl | rs786204841 |
| geneview | rs786204841 |
| scholar | rs786204841 |
| rs786204841 | |
| pharmgkb | rs786204841 |
| gwascentral | rs786204841 |
| openSNP | rs786204841 |
| 23andMe | rs786204841 |
| SNPshot | rs786204841 |
| SNPdbe | rs786204841 |
| MSV3d | rs786204841 |
| GWAS Ctlg | rs786204841 |
| Max Magnitude | 6 |
rs786204841, also known as c.694G>A, p.Gly232Arg and G232R, 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 | Rs786204841(A;A) |
| Alt | Rs786204841(A;A) |
| Reference | Rs786204841(G;G) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | CLDN14 |
| CLNDBN | Deafness, autosomal recessive 29 |
| Reversed | 1 |
| HGVS | NC_000021.8:g.37833300C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000169749.3, |
