rs111033267
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs111033267(A;A) |
| Make rs111033267(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 150972520 |
| Gene | CLRN1, CLRN1-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033267 |
| dbSNP (classic) | rs111033267 |
| ClinGen | rs111033267 |
| ebi | rs111033267 |
| HLI | rs111033267 |
| Exac | rs111033267 |
| Gnomad | rs111033267 |
| Varsome | rs111033267 |
| LitVar | rs111033267 |
| Map | rs111033267 |
| PheGenI | rs111033267 |
| Biobank | rs111033267 |
| 1000 genomes | rs111033267 |
| hgdp | rs111033267 |
| ensembl | rs111033267 |
| geneview | rs111033267 |
| scholar | rs111033267 |
| rs111033267 | |
| pharmgkb | rs111033267 |
| gwascentral | rs111033267 |
| openSNP | rs111033267 |
| 23andMe | rs111033267 |
| SNPshot | rs111033267 |
| SNPdbe | rs111033267 |
| MSV3d | rs111033267 |
| GWAS Ctlg | rs111033267 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033267(A;A) rs111033267(T;T) |
| Alt | rs111033267(A;A) rs111033267(T;T) |
| Reference | Rs111033267(C;C) |
| Significance | Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | CLRN1-AS1 CLRN1 |
| CLNDBN | Usher syndrome, type 3A |
| Reversed | 1 |
| HGVS | NC_000003.11:g.150690307G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004647.4, |
[PMID 12080385] USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
[PMID 15521980] Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.
