rs545947177
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs545947177(A;C) |
| Make rs545947177(C;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 11 |
| Position | 72106214 |
| Gene | ANAPC15, LRTOMT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs545947177 |
| dbSNP (classic) | rs545947177 |
| ClinGen | rs545947177 |
| ebi | rs545947177 |
| HLI | rs545947177 |
| Exac | rs545947177 |
| Gnomad | rs545947177 |
| Varsome | rs545947177 |
| LitVar | rs545947177 |
| Map | rs545947177 |
| PheGenI | rs545947177 |
| Biobank | rs545947177 |
| 1000 genomes | rs545947177 |
| hgdp | rs545947177 |
| ensembl | rs545947177 |
| geneview | rs545947177 |
| scholar | rs545947177 |
| rs545947177 | |
| pharmgkb | rs545947177 |
| gwascentral | rs545947177 |
| openSNP | rs545947177 |
| 23andMe | rs545947177 |
| SNPshot | rs545947177 |
| SNPdbe | rs545947177 |
| MSV3d | rs545947177 |
| GWAS Ctlg | rs545947177 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs545947177(C;C) |
| Alt | rs545947177(C;C) |
| Reference | Rs545947177(A;A) |
| Significance | Pathogenic |
| Disease | Deafness Nonsyndromic hearing loss and deafness |
| Variation | info |
| Gene | ANAPC15 LRTOMT |
| CLNDBN | Deafness, autosomal recessive 63 Nonsyndromic hearing loss and deafness |
| Reversed | 0 |
| HGVS | NC_000011.9:g.71817260A>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000156590.4, RCV000211724.1, |
