rs2274159
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 0 |
| Make rs2274159(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 114403966 |
| Gene | WHRN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2274159 |
| dbSNP (classic) | rs2274159 |
| ClinGen | rs2274159 |
| ebi | rs2274159 |
| HLI | rs2274159 |
| Exac | rs2274159 |
| Gnomad | rs2274159 |
| Varsome | rs2274159 |
| LitVar | rs2274159 |
| Map | rs2274159 |
| PheGenI | rs2274159 |
| Biobank | rs2274159 |
| 1000 genomes | rs2274159 |
| hgdp | rs2274159 |
| ensembl | rs2274159 |
| geneview | rs2274159 |
| scholar | rs2274159 |
| rs2274159 | |
| pharmgkb | rs2274159 |
| gwascentral | rs2274159 |
| openSNP | rs2274159 |
| 23andMe | rs2274159 |
| SNPshot | rs2274159 |
| SNPdbe | rs2274159 |
| MSV3d | rs2274159 |
| GWAS Ctlg | rs2274159 |
| GMAF | 0.4219 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 21239504] Novel Chemosensitive Single-Nucleotide Polymorphism Markers to Targeted Regimens in Metastatic Colorectal Cancer
| ClinVar | |
|---|---|
| Risk | rs2274159(G;G) |
| Alt | rs2274159(G;G) |
| Reference | Rs2274159(A;A) |
| 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.117166246A>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000038890.3, RCV000278001.1, RCV000370224.1, |
[PMID 20352026
] Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
[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.
