rs201223321
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs201223321(A;T) |
| Make rs201223321(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 94055132 |
| Gene | ABCA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201223321 |
| dbSNP (classic) | rs201223321 |
| ClinGen | rs201223321 |
| ebi | rs201223321 |
| HLI | rs201223321 |
| Exac | rs201223321 |
| Gnomad | rs201223321 |
| Varsome | rs201223321 |
| LitVar | rs201223321 |
| Map | rs201223321 |
| PheGenI | rs201223321 |
| Biobank | rs201223321 |
| 1000 genomes | rs201223321 |
| hgdp | rs201223321 |
| ensembl | rs201223321 |
| geneview | rs201223321 |
| scholar | rs201223321 |
| rs201223321 | |
| pharmgkb | rs201223321 |
| gwascentral | rs201223321 |
| openSNP | rs201223321 |
| 23andMe | rs201223321 |
| SNPshot | rs201223321 |
| SNPdbe | rs201223321 |
| MSV3d | rs201223321 |
| GWAS Ctlg | rs201223321 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201223321(G;G) rs201223321(T;T) |
| Alt | rs201223321(G;G) rs201223321(T;T) |
| Reference | Rs201223321(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Retinal dystrophy not provided |
| Variation | info |
| Gene | ABCA4 |
| CLNDBN | Retinal dystrophy not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.94520688A>T |
| CLNSRC | |
| CLNACC | RCV000225582.1, RCV000481787.1, |
