rs281865195
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (TGCAGAGCCACC;TGCAGAGCCACC) | 0 | common in clinvar |
| Make rs281865195(-;-) |
| Make rs281865195(-;TGCAGAGCCACC) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 6425551 |
| Gene | AIPL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281865195 |
| dbSNP (classic) | rs281865195 |
| ClinGen | rs281865195 |
| ebi | rs281865195 |
| HLI | rs281865195 |
| Exac | rs281865195 |
| Gnomad | rs281865195 |
| Varsome | rs281865195 |
| LitVar | rs281865195 |
| Map | rs281865195 |
| PheGenI | rs281865195 |
| Biobank | rs281865195 |
| 1000 genomes | rs281865195 |
| hgdp | rs281865195 |
| ensembl | rs281865195 |
| geneview | rs281865195 |
| scholar | rs281865195 |
| rs281865195 | |
| pharmgkb | rs281865195 |
| gwascentral | rs281865195 |
| openSNP | rs281865195 |
| 23andMe | rs281865195 |
| SNPshot | rs281865195 |
| SNPdbe | rs281865195 |
| MSV3d | rs281865195 |
| GWAS Ctlg | rs281865195 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs281865195(-;-) |
| Alt | rs281865195(-;-) |
| Reference | Rs281865195(TGCAGAGCCACC;TGCAGAGCCACC) |
| Significance | Pathogenic |
| Disease | Juvenile retinitis pigmentosa CONE-ROD DYSTROPHY not provided |
| Variation | info |
| Gene | AIPL1 |
| CLNDBN | Juvenile retinitis pigmentosa, AIPL1-related CONE-ROD DYSTROPHY, AIPL1-RELATED not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.6328871_6328882delGGTGGCTCTGCA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005909.2, RCV000005910.2, RCV000086210.1, |
