rs121908192
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121908192(A;A) |
| Make rs121908192(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 1985991 |
| Gene | GFER |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908192 |
| dbSNP (classic) | rs121908192 |
| ClinGen | rs121908192 |
| ebi | rs121908192 |
| HLI | rs121908192 |
| Exac | rs121908192 |
| Gnomad | rs121908192 |
| Varsome | rs121908192 |
| LitVar | rs121908192 |
| Map | rs121908192 |
| PheGenI | rs121908192 |
| Biobank | rs121908192 |
| 1000 genomes | rs121908192 |
| hgdp | rs121908192 |
| ensembl | rs121908192 |
| geneview | rs121908192 |
| scholar | rs121908192 |
| rs121908192 | |
| pharmgkb | rs121908192 |
| gwascentral | rs121908192 |
| openSNP | rs121908192 |
| 23andMe | rs121908192 |
| 23andMe all | rs121908192 |
| SNPshot | rs121908192 |
| SNPdbe | rs121908192 |
| MSV3d | rs121908192 |
| GWAS Ctlg | rs121908192 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121908192(A;A) |
| Alt | rs121908192(A;A) |
| Reference | Rs121908192(G;G) |
| Significance | Pathogenic |
| Disease | Myopathy not provided |
| Variation | info |
| Gene | GFER |
| CLNDBN | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2035992G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000009228.3, RCV000199876.1, |
[PMID 19409522
] The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.
