rs370983472
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs370983472(A;A) |
| Make rs370983472(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 71799629 |
| Gene | CDH23 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs370983472 |
| dbSNP (classic) | rs370983472 |
| ClinGen | rs370983472 |
| ebi | rs370983472 |
| HLI | rs370983472 |
| Exac | rs370983472 |
| Gnomad | rs370983472 |
| Varsome | rs370983472 |
| LitVar | rs370983472 |
| Map | rs370983472 |
| PheGenI | rs370983472 |
| Biobank | rs370983472 |
| 1000 genomes | rs370983472 |
| hgdp | rs370983472 |
| ensembl | rs370983472 |
| geneview | rs370983472 |
| scholar | rs370983472 |
| rs370983472 | |
| pharmgkb | rs370983472 |
| gwascentral | rs370983472 |
| openSNP | rs370983472 |
| 23andMe | rs370983472 |
| SNPshot | rs370983472 |
| SNPdbe | rs370983472 |
| MSV3d | rs370983472 |
| GWAS Ctlg | rs370983472 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs370983472(A;A) |
| Alt | rs370983472(A;A) |
| Reference | Rs370983472(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Usher syndrome not specified |
| Variation | info |
| Gene | CDH23 |
| CLNDBN | Usher syndrome, type 1D not specified |
| Reversed | 0 |
| HGVS | NC_000010.10:g.73559386G>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000039265.3, RCV000483242.1, |
