rs1800552
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a mutation for Stargardt disease |
| (G;G) | 0 | common in clinvar |
| Make rs1800552(A;A) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 94010821 |
| Gene | ABCA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800552 |
| dbSNP (classic) | rs1800552 |
| ClinGen | rs1800552 |
| ebi | rs1800552 |
| HLI | rs1800552 |
| Exac | rs1800552 |
| Gnomad | rs1800552 |
| Varsome | rs1800552 |
| LitVar | rs1800552 |
| Map | rs1800552 |
| PheGenI | rs1800552 |
| Biobank | rs1800552 |
| 1000 genomes | rs1800552 |
| hgdp | rs1800552 |
| ensembl | rs1800552 |
| geneview | rs1800552 |
| scholar | rs1800552 |
| rs1800552 | |
| pharmgkb | rs1800552 |
| gwascentral | rs1800552 |
| openSNP | rs1800552 |
| 23andMe | rs1800552 |
| SNPshot | rs1800552 |
| SNPdbe | rs1800552 |
| MSV3d | rs1800552 |
| GWAS Ctlg | rs1800552 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs1800552(A;A) |
| Alt | rs1800552(A;A) |
| Reference | Rs1800552(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided Stargardt disease 1 |
| Variation | info |
| Gene | ABCA4 |
| CLNDBN | not provided Stargardt disease 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.94476377C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000085752.1, RCV000408593.1, |
