rs377145777
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs377145777(A;A) |
| Make rs377145777(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 11 |
| Position | 17527256 |
| Gene | USH1C |
| is a | snp |
| is | mentioned by |
| dbSNP | rs377145777 |
| dbSNP (classic) | rs377145777 |
| ClinGen | rs377145777 |
| ebi | rs377145777 |
| HLI | rs377145777 |
| Exac | rs377145777 |
| Gnomad | rs377145777 |
| Varsome | rs377145777 |
| LitVar | rs377145777 |
| Map | rs377145777 |
| PheGenI | rs377145777 |
| Biobank | rs377145777 |
| 1000 genomes | rs377145777 |
| hgdp | rs377145777 |
| ensembl | rs377145777 |
| geneview | rs377145777 |
| scholar | rs377145777 |
| rs377145777 | |
| pharmgkb | rs377145777 |
| gwascentral | rs377145777 |
| openSNP | rs377145777 |
| 23andMe | rs377145777 |
| SNPshot | rs377145777 |
| SNPdbe | rs377145777 |
| MSV3d | rs377145777 |
| GWAS Ctlg | rs377145777 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs377145777(A;A) |
| Alt | rs377145777(A;A) |
| Reference | Rs377145777(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Deafness Usher syndrome |
| Variation | info |
| Gene | USH1C |
| CLNDBN | Deafness, autosomal recessive 18 Usher syndrome, type 1C |
| Reversed | 0 |
| HGVS | NC_000011.9:g.17548803G>A |
| CLNSRC | |
| CLNACC | RCV000409966.1, RCV000412375.1, |
