rs55843567
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs55843567(C;T) |
| Make rs55843567(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 17527331 |
| Gene | USH1C |
| is a | snp |
| is | mentioned by |
| dbSNP | rs55843567 |
| dbSNP (classic) | rs55843567 |
| ClinGen | rs55843567 |
| ebi | rs55843567 |
| HLI | rs55843567 |
| Exac | rs55843567 |
| Gnomad | rs55843567 |
| Varsome | rs55843567 |
| LitVar | rs55843567 |
| Map | rs55843567 |
| PheGenI | rs55843567 |
| Biobank | rs55843567 |
| 1000 genomes | rs55843567 |
| hgdp | rs55843567 |
| ensembl | rs55843567 |
| geneview | rs55843567 |
| scholar | rs55843567 |
| rs55843567 | |
| pharmgkb | rs55843567 |
| gwascentral | rs55843567 |
| openSNP | rs55843567 |
| 23andMe | rs55843567 |
| SNPshot | rs55843567 |
| SNPdbe | rs55843567 |
| MSV3d | rs55843567 |
| GWAS Ctlg | rs55843567 |
| GMAF | 0.01469 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs55843567(T;T) |
| Alt | rs55843567(T;T) |
| Reference | Rs55843567(C;C) |
| Significance | Non-pathogenic |
| Disease | Usher syndrome not specified |
| Variation | info |
| Gene | USH1C |
| CLNDBN | Usher syndrome, type 1C not specified |
| Reversed | 0 |
| HGVS | NC_000011.9:g.17548878C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005456.4, RCV000041291.3, |
[PMID 12702164] The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.
