rs80356524
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80356524(A;A) |
| Make rs80356524(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 45553777 |
| Gene | OPA3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356524 |
| dbSNP (classic) | rs80356524 |
| ClinGen | rs80356524 |
| ebi | rs80356524 |
| HLI | rs80356524 |
| Exac | rs80356524 |
| Gnomad | rs80356524 |
| Varsome | rs80356524 |
| LitVar | rs80356524 |
| Map | rs80356524 |
| PheGenI | rs80356524 |
| Biobank | rs80356524 |
| 1000 genomes | rs80356524 |
| hgdp | rs80356524 |
| ensembl | rs80356524 |
| geneview | rs80356524 |
| scholar | rs80356524 |
| rs80356524 | |
| pharmgkb | rs80356524 |
| gwascentral | rs80356524 |
| openSNP | rs80356524 |
| 23andMe | rs80356524 |
| SNPshot | rs80356524 |
| SNPdbe | rs80356524 |
| MSV3d | rs80356524 |
| GWAS Ctlg | rs80356524 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356524(A;A) |
| Alt | rs80356524(A;A) |
| Reference | Rs80356524(G;G) |
| Significance | Pathogenic |
| Disease | Optic atrophy and cataract |
| Variation | info |
| Gene | OPA3 |
| CLNDBN | Optic atrophy and cataract, autosomal dominant |
| Reversed | 1 |
| HGVS | NC_000019.9:g.46057035C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004462.2, |
[PMID 13703570] [On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease with ocular symptoms].
[PMID 15342707
] OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
