rs113363047
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (GTT;GTT) | 0 | common in clinvar |
| Make rs113363047(-;-) |
| Make rs113363047(-;GTT) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 10 |
| Position | 53822123 |
| Gene | PCDH15 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113363047 |
| dbSNP (classic) | rs113363047 |
| ClinGen | rs113363047 |
| ebi | rs113363047 |
| HLI | rs113363047 |
| Exac | rs113363047 |
| Gnomad | rs113363047 |
| Varsome | rs113363047 |
| LitVar | rs113363047 |
| Map | rs113363047 |
| PheGenI | rs113363047 |
| Biobank | rs113363047 |
| 1000 genomes | rs113363047 |
| hgdp | rs113363047 |
| ensembl | rs113363047 |
| geneview | rs113363047 |
| scholar | rs113363047 |
| rs113363047 | |
| pharmgkb | rs113363047 |
| gwascentral | rs113363047 |
| openSNP | rs113363047 |
| 23andMe | rs113363047 |
| SNPshot | rs113363047 |
| SNPdbe | rs113363047 |
| MSV3d | rs113363047 |
| GWAS Ctlg | rs113363047 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs113363047(-;-) rs113363047(TTG;TTG) |
| Alt | rs113363047(-;-) rs113363047(TTG;TTG) |
| Reference | Rs113363047(GTT;GTT) |
| Significance | Pathogenic |
| Disease | not specified Usher syndrome |
| Variation | info |
| Gene | PCDH15 |
| CLNDBN | not specified Usher syndrome, type 1 |
| Reversed | 0 |
| HGVS | NC_000010.10:g.55581883_55581885delGTT |
| CLNSRC | HGMD |
| CLNACC | RCV000039764.5, RCV000215699.1, |
