rs80356531
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs80356531(-;-) |
| Make rs80356531(-;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 193692070 |
| Gene | OPA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356531 |
| dbSNP (classic) | rs80356531 |
| ClinGen | rs80356531 |
| ebi | rs80356531 |
| HLI | rs80356531 |
| Exac | rs80356531 |
| Gnomad | rs80356531 |
| Varsome | rs80356531 |
| LitVar | rs80356531 |
| Map | rs80356531 |
| PheGenI | rs80356531 |
| Biobank | rs80356531 |
| 1000 genomes | rs80356531 |
| hgdp | rs80356531 |
| ensembl | rs80356531 |
| geneview | rs80356531 |
| scholar | rs80356531 |
| rs80356531 | |
| pharmgkb | rs80356531 |
| gwascentral | rs80356531 |
| openSNP | rs80356531 |
| 23andMe | rs80356531 |
| SNPshot | rs80356531 |
| SNPdbe | rs80356531 |
| MSV3d | rs80356531 |
| GWAS Ctlg | rs80356531 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356531(-;-) |
| Alt | rs80356531(-;-) |
| Reference | Rs80356531(T;T) |
| Significance | Pathogenic |
| Disease | Dominant hereditary optic atrophy |
| Variation | info |
| Gene | OPA1 |
| CLNDBN | Dominant hereditary optic atrophy |
| Reversed | 0 |
| HGVS | NC_000003.11:g.193409859delT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005393.2, |
[PMID 11735024] A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.
