rs62638180
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs62638180(-;-) |
| Make rs62638180(-;CTTTA) |
| Make rs62638180(CTTTA;CTTTA) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 12 |
| Position | 88071819 |
| Gene | CEP290 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs62638180 |
| dbSNP (classic) | rs62638180 |
| ClinGen | rs62638180 |
| ebi | rs62638180 |
| HLI | rs62638180 |
| Exac | rs62638180 |
| Gnomad | rs62638180 |
| Varsome | rs62638180 |
| LitVar | rs62638180 |
| Map | rs62638180 |
| PheGenI | rs62638180 |
| Biobank | rs62638180 |
| 1000 genomes | rs62638180 |
| hgdp | rs62638180 |
| ensembl | rs62638180 |
| geneview | rs62638180 |
| scholar | rs62638180 |
| rs62638180 | |
| pharmgkb | rs62638180 |
| gwascentral | rs62638180 |
| openSNP | rs62638180 |
| 23andMe | rs62638180 |
| SNPshot | rs62638180 |
| SNPdbe | rs62638180 |
| MSV3d | rs62638180 |
| GWAS Ctlg | rs62638180 |
| Max Magnitude | 0 |
aka c.5813_5817delCTTTA (p.Thr1938Asnfs)
Listed in ClinVar but without known significance; listed in the CEP290 database as a truncating deletion, presumably leading to a CEP290-gene related recessively inherited disease.
