rs121908362
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | carrier of a Pendred Syndrome allele |
| (G;G) | 5 | Pendred Syndrome |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 107710132 |
| Gene | SLC26A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908362 |
| dbSNP (classic) | rs121908362 |
| ClinGen | rs121908362 |
| ebi | rs121908362 |
| HLI | rs121908362 |
| Exac | rs121908362 |
| Gnomad | rs121908362 |
| Varsome | rs121908362 |
| LitVar | rs121908362 |
| Map | rs121908362 |
| PheGenI | rs121908362 |
| Biobank | rs121908362 |
| 1000 genomes | rs121908362 |
| hgdp | rs121908362 |
| ensembl | rs121908362 |
| geneview | rs121908362 |
| scholar | rs121908362 |
| rs121908362 | |
| pharmgkb | rs121908362 |
| gwascentral | rs121908362 |
| openSNP | rs121908362 |
| 23andMe | rs121908362 |
| SNPshot | rs121908362 |
| SNPdbe | rs121908362 |
| MSV3d | rs121908362 |
| GWAS Ctlg | rs121908362 |
| GMAF | 0.0009183 |
| Max Magnitude | 5 |
rs121908362, also known as H723R, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.
| ClinVar | |
|---|---|
| Risk | Rs121908362(G;G) |
| Alt | Rs121908362(G;G) |
| Reference | Rs121908362(A;A) |
| Significance | Other |
| Disease | Enlarged vestibular aqueduct syndrome Pendred's syndrome not provided |
| Variation | info |
| Gene | SLC26A4 |
| CLNDBN | Enlarged vestibular aqueduct syndrome Pendred's syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.107350577A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005094.4, RCV000005095.3, RCV000036477.2, RCV000480319.1, |
