rs201328768
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs201328768(A;A) |
| Make rs201328768(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 10 |
| Position | 54020319 |
| Gene | PCDH15 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201328768 |
| dbSNP (classic) | rs201328768 |
| ClinGen | rs201328768 |
| ebi | rs201328768 |
| HLI | rs201328768 |
| Exac | rs201328768 |
| Gnomad | rs201328768 |
| Varsome | rs201328768 |
| LitVar | rs201328768 |
| Map | rs201328768 |
| PheGenI | rs201328768 |
| Biobank | rs201328768 |
| 1000 genomes | rs201328768 |
| hgdp | rs201328768 |
| ensembl | rs201328768 |
| geneview | rs201328768 |
| scholar | rs201328768 |
| rs201328768 | |
| pharmgkb | rs201328768 |
| gwascentral | rs201328768 |
| openSNP | rs201328768 |
| 23andMe | rs201328768 |
| SNPshot | rs201328768 |
| SNPdbe | rs201328768 |
| MSV3d | rs201328768 |
| GWAS Ctlg | rs201328768 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201328768(A;A) rs201328768(T;T) |
| Alt | rs201328768(A;A) rs201328768(T;T) |
| Reference | Rs201328768(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | PCDH15 |
| CLNDBN | Usher syndrome, type 1F |
| Reversed | 0 |
| HGVS | NC_000010.10:g.55780079G>T |
| CLNSRC | |
| CLNACC | RCV000410835.1, |
