rs1801581
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1801581(A;A) |
| Make rs1801581(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 94047009 |
| Gene | ABCA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801581 |
| dbSNP (classic) | rs1801581 |
| ClinGen | rs1801581 |
| ebi | rs1801581 |
| HLI | rs1801581 |
| Exac | rs1801581 |
| Gnomad | rs1801581 |
| Varsome | rs1801581 |
| LitVar | rs1801581 |
| Map | rs1801581 |
| PheGenI | rs1801581 |
| Biobank | rs1801581 |
| 1000 genomes | rs1801581 |
| hgdp | rs1801581 |
| ensembl | rs1801581 |
| geneview | rs1801581 |
| scholar | rs1801581 |
| rs1801581 | |
| pharmgkb | rs1801581 |
| gwascentral | rs1801581 |
| openSNP | rs1801581 |
| 23andMe | rs1801581 |
| SNPshot | rs1801581 |
| SNPdbe | rs1801581 |
| MSV3d | rs1801581 |
| GWAS Ctlg | rs1801581 |
| GMAF | 0.01469 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1801581(A;A) rs1801581(T;T) |
| Alt | rs1801581(A;A) rs1801581(T;T) |
| Reference | Rs1801581(G;G) |
| Significance | Other |
| Disease | MACULAR DEGENERATION Stargardt disease 1 not provided not specified Macular degeneration Cone-Rod Dystrophy Retinitis Pigmentosa Stargardt Disease |
| Variation | info |
| Gene | ABCA4 |
| CLNDBN | MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Stargardt disease 1 not provided not specified Macular degeneration Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive |
| Reversed | 1 |
| HGVS | NC_000001.10:g.94512565C>T |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008374.4, RCV000008375.4, RCV000085512.3, RCV000152706.4, RCV000294335.1, RCV000349295.1, RCV000392936.1, RCV000399411.1, |
