rs942519
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 0 |
| Make rs942519(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 114406753 |
| Gene | WHRN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs942519 |
| dbSNP (classic) | rs942519 |
| ClinGen | rs942519 |
| ebi | rs942519 |
| HLI | rs942519 |
| Exac | rs942519 |
| Gnomad | rs942519 |
| Varsome | rs942519 |
| LitVar | rs942519 |
| Map | rs942519 |
| PheGenI | rs942519 |
| Biobank | rs942519 |
| 1000 genomes | rs942519 |
| hgdp | rs942519 |
| ensembl | rs942519 |
| geneview | rs942519 |
| scholar | rs942519 |
| rs942519 | |
| pharmgkb | rs942519 |
| gwascentral | rs942519 |
| openSNP | rs942519 |
| 23andMe | rs942519 |
| SNPshot | rs942519 |
| SNPdbe | rs942519 |
| MSV3d | rs942519 |
| GWAS Ctlg | rs942519 |
| GMAF | 0.4876 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs942519(G;G) |
| Alt | rs942519(G;G) |
| Reference | Rs942519(A;A) |
| 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.117169033A>G |
| CLNSRC | ClinVar Emory University |
| CLNACC | RCV000038881.8, RCV000267996.1, RCV000316178.1, |
[PMID 20352026
] Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
[PMID 20583170] Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
[PMID 15841483] Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.
