rs2274158
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2274158(G;T) |
| Make rs2274158(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 114403926 |
| Gene | WHRN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2274158 |
| dbSNP (classic) | rs2274158 |
| ClinGen | rs2274158 |
| ebi | rs2274158 |
| HLI | rs2274158 |
| Exac | rs2274158 |
| Gnomad | rs2274158 |
| Varsome | rs2274158 |
| LitVar | rs2274158 |
| Map | rs2274158 |
| PheGenI | rs2274158 |
| Biobank | rs2274158 |
| 1000 genomes | rs2274158 |
| hgdp | rs2274158 |
| ensembl | rs2274158 |
| geneview | rs2274158 |
| scholar | rs2274158 |
| rs2274158 | |
| pharmgkb | rs2274158 |
| gwascentral | rs2274158 |
| openSNP | rs2274158 |
| 23andMe | rs2274158 |
| SNPshot | rs2274158 |
| SNPdbe | rs2274158 |
| MSV3d | rs2274158 |
| GWAS Ctlg | rs2274158 |
| GMAF | 0.2351 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2274158(A;A) rs2274158(C;C) rs2274158(T;T) |
| Alt | rs2274158(A;A) rs2274158(C;C) rs2274158(T;T) |
| Reference | Rs2274158(G;G) |
| 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.117166206G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000038892.3, RCV000334982.1, RCV000391015.1, |
[PMID 20352026
] Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
