rs4978584
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs4978584(C;T) |
| Make rs4978584(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 114424432 |
| Gene | WHRN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4978584 |
| dbSNP (classic) | rs4978584 |
| ClinGen | rs4978584 |
| ebi | rs4978584 |
| HLI | rs4978584 |
| Exac | rs4978584 |
| Gnomad | rs4978584 |
| Varsome | rs4978584 |
| LitVar | rs4978584 |
| Map | rs4978584 |
| PheGenI | rs4978584 |
| Biobank | rs4978584 |
| 1000 genomes | rs4978584 |
| hgdp | rs4978584 |
| ensembl | rs4978584 |
| geneview | rs4978584 |
| scholar | rs4978584 |
| rs4978584 | |
| pharmgkb | rs4978584 |
| gwascentral | rs4978584 |
| openSNP | rs4978584 |
| 23andMe | rs4978584 |
| SNPshot | rs4978584 |
| SNPdbe | rs4978584 |
| MSV3d | rs4978584 |
| GWAS Ctlg | rs4978584 |
| GMAF | 0.2383 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs4978584(T;T) |
| Alt | rs4978584(T;T) |
| Reference | Rs4978584(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome |
| Variation | info |
| Gene | WHRN DFNB31 |
| CLNDBN | not specified Nonsyndromic Hearing Loss, Recessive Retinitis pigmentosa-deafness syndrome |
| Reversed | 0 |
| HGVS | NC_000009.11:g.117186712C>T |
| CLNSRC | ClinVar Emory University |
| CLNACC | RCV000038865.7, RCV000289765.1, RCV000347007.1, |
[PMID 20352026
] Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
