rs12339210
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs12339210(C;C) |
| Make rs12339210(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 114407961 |
| Gene | WHRN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12339210 |
| dbSNP (classic) | rs12339210 |
| ClinGen | rs12339210 |
| ebi | rs12339210 |
| HLI | rs12339210 |
| Exac | rs12339210 |
| Gnomad | rs12339210 |
| Varsome | rs12339210 |
| LitVar | rs12339210 |
| Map | rs12339210 |
| PheGenI | rs12339210 |
| Biobank | rs12339210 |
| 1000 genomes | rs12339210 |
| hgdp | rs12339210 |
| ensembl | rs12339210 |
| geneview | rs12339210 |
| scholar | rs12339210 |
| rs12339210 | |
| pharmgkb | rs12339210 |
| gwascentral | rs12339210 |
| openSNP | rs12339210 |
| 23andMe | rs12339210 |
| SNPshot | rs12339210 |
| SNPdbe | rs12339210 |
| MSV3d | rs12339210 |
| GWAS Ctlg | rs12339210 |
| GMAF | 0.0652 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs12339210(C;C) |
| Alt | rs12339210(C;C) |
| Reference | Rs12339210(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Retinitis pigmentosa-deafness syndrome Nonsyndromic Hearing Loss |
| Variation | info |
| Gene | WHRN DFNB31 |
| CLNDBN | not specified Retinitis pigmentosa-deafness syndrome Nonsyndromic Hearing Loss, Recessive |
| Reversed | 0 |
| HGVS | NC_000009.11:g.117170241G>C |
| CLNSRC | ClinVar GeneDx |
| CLNACC | RCV000038879.4, RCV000280917.1, RCV000372875.1, |
[PMID 20352026
] Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
