rs727504301
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs727504301(C;T) |
| Make rs727504301(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 10 |
| Position | 54090054 |
| Gene | PCDH15 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727504301 |
| dbSNP (classic) | rs727504301 |
| ClinGen | rs727504301 |
| ebi | rs727504301 |
| HLI | rs727504301 |
| Exac | rs727504301 |
| Gnomad | rs727504301 |
| Varsome | rs727504301 |
| LitVar | rs727504301 |
| Map | rs727504301 |
| PheGenI | rs727504301 |
| Biobank | rs727504301 |
| 1000 genomes | rs727504301 |
| hgdp | rs727504301 |
| ensembl | rs727504301 |
| geneview | rs727504301 |
| scholar | rs727504301 |
| rs727504301 | |
| pharmgkb | rs727504301 |
| gwascentral | rs727504301 |
| openSNP | rs727504301 |
| 23andMe | rs727504301 |
| SNPshot | rs727504301 |
| SNPdbe | rs727504301 |
| MSV3d | rs727504301 |
| GWAS Ctlg | rs727504301 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs727504301(G;G) rs727504301(T;T) |
| Alt | rs727504301(G;G) rs727504301(T;T) |
| Reference | Rs727504301(C;C) |
| Significance | Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | PCDH15 |
| CLNDBN | Usher syndrome, type 1F |
| Reversed | 1 |
| HGVS | NC_000010.10:g.55849814G>A |
| CLNSRC | |
| CLNACC | RCV000154331.1, |
