rs28938473
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a mutation for a type of Stargardt disease |
| (T;T) | 5 | Fundus flavimaculatus, a type of Stargardt disease, likely |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 94007731 |
| Gene | ABCA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28938473 |
| dbSNP (classic) | rs28938473 |
| ClinGen | rs28938473 |
| ebi | rs28938473 |
| HLI | rs28938473 |
| Exac | rs28938473 |
| Gnomad | rs28938473 |
| Varsome | rs28938473 |
| LitVar | rs28938473 |
| Map | rs28938473 |
| PheGenI | rs28938473 |
| Biobank | rs28938473 |
| 1000 genomes | rs28938473 |
| hgdp | rs28938473 |
| ensembl | rs28938473 |
| geneview | rs28938473 |
| scholar | rs28938473 |
| rs28938473 | |
| pharmgkb | rs28938473 |
| gwascentral | rs28938473 |
| openSNP | rs28938473 |
| 23andMe | rs28938473 |
| SNPshot | rs28938473 |
| SNPdbe | rs28938473 |
| MSV3d | rs28938473 |
| GWAS Ctlg | rs28938473 |
| GMAF | 0.002755 |
| Max Magnitude | 5 |
rs28938473, also known as c.5908C>T, p.Leu1970Phe and L1970F, represents a rare mutation in the ABCA4 gene on chromosome 1.
Although there are disagreements in ClinVar about whether this is a benign variant, the majority of reports consider the minor allele (when inherited recessively) to be pathogenic for a subtype of Stargardt disease known as Fundus flavimaculatus.
| ClinVar | |
|---|---|
| Risk | Rs28938473(T;T) |
| Alt | Rs28938473(T;T) |
| Reference | Rs28938473(C;C) |
| Significance | Other |
| Disease | Stargardt disease not provided not specified Stargardt disease 1 |
| Variation | info |
| Gene | ABCA4 |
| CLNDBN | Stargardt disease not provided not specified Stargardt disease 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.94473287G>A |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008346.3, RCV000085773.5, RCV000259062.1, RCV000408598.1, |
