rs431905517
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs431905517(A;C) |
| Make rs431905517(C;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 103413015 |
| Gene | SLC26A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs431905517 |
| dbSNP (classic) | rs431905517 |
| ClinGen | rs431905517 |
| ebi | rs431905517 |
| HLI | rs431905517 |
| Exac | rs431905517 |
| Gnomad | rs431905517 |
| Varsome | rs431905517 |
| LitVar | rs431905517 |
| Map | rs431905517 |
| PheGenI | rs431905517 |
| Biobank | rs431905517 |
| 1000 genomes | rs431905517 |
| hgdp | rs431905517 |
| ensembl | rs431905517 |
| geneview | rs431905517 |
| scholar | rs431905517 |
| rs431905517 | |
| pharmgkb | rs431905517 |
| gwascentral | rs431905517 |
| openSNP | rs431905517 |
| 23andMe | rs431905517 |
| SNPshot | rs431905517 |
| SNPdbe | rs431905517 |
| MSV3d | rs431905517 |
| GWAS Ctlg | rs431905517 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs431905517(C;C) |
| Alt | rs431905517(C;C) |
| Reference | Rs431905517(A;A) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | SLC26A5 |
| CLNDBN | Deafness, autosomal recessive 61 |
| Reversed | 1 |
| HGVS | NC_000007.13:g.103053462T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000083266.6, |
