rs111033364
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs111033364(A;A) |
| Make rs111033364(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 215728232 |
| Gene | USH2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033364 |
| dbSNP (classic) | rs111033364 |
| ClinGen | rs111033364 |
| ebi | rs111033364 |
| HLI | rs111033364 |
| Exac | rs111033364 |
| Gnomad | rs111033364 |
| Varsome | rs111033364 |
| LitVar | rs111033364 |
| Map | rs111033364 |
| PheGenI | rs111033364 |
| Biobank | rs111033364 |
| 1000 genomes | rs111033364 |
| hgdp | rs111033364 |
| ensembl | rs111033364 |
| geneview | rs111033364 |
| scholar | rs111033364 |
| rs111033364 | |
| pharmgkb | rs111033364 |
| gwascentral | rs111033364 |
| openSNP | rs111033364 |
| 23andMe | rs111033364 |
| SNPshot | rs111033364 |
| SNPdbe | rs111033364 |
| MSV3d | rs111033364 |
| GWAS Ctlg | rs111033364 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033364(A;A) |
| Alt | rs111033364(A;A) |
| Reference | Rs111033364(G;G) |
| Significance | Pathogenic |
| Disease | Usher syndrome Retinitis pigmentosa 39 not provided Hearing impairment Congenital sensorineural hearing impairment |
| Variation | info |
| Gene | USH2A |
| CLNDBN | Usher syndrome, type 2A Retinitis pigmentosa 39 not provided Hearing impairment Congenital sensorineural hearing impairment |
| Reversed | 1 |
| HGVS | NC_000001.10:g.215901574C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002451.6, RCV000412373.1, RCV000414231.1, RCV000414867.1, RCV000415089.1, |
[PMID 15015129
] Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
[PMID 16963483] Development of a genotyping microarray for Usher syndrome.
