rs761334309
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 3 | Carrier of a combined oxidative phosphorylation deficiency-36 mutation |
| Make rs761334309(T;T) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 9 |
| Position | 135503570 |
| Gene | LOC101928525, MRPS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs761334309 |
| dbSNP (classic) | rs761334309 |
| ClinGen | rs761334309 |
| ebi | rs761334309 |
| HLI | rs761334309 |
| Exac | rs761334309 |
| Gnomad | rs761334309 |
| Varsome | rs761334309 |
| LitVar | rs761334309 |
| Map | rs761334309 |
| PheGenI | rs761334309 |
| Biobank | rs761334309 |
| 1000 genomes | rs761334309 |
| hgdp | rs761334309 |
| ensembl | rs761334309 |
| geneview | rs761334309 |
| scholar | rs761334309 |
| rs761334309 | |
| pharmgkb | rs761334309 |
| gwascentral | rs761334309 |
| openSNP | rs761334309 |
| 23andMe | rs761334309 |
| SNPshot | rs761334309 |
| SNPdbe | rs761334309 |
| MSV3d | rs761334309 |
| GWAS Ctlg | rs761334309 |
| Max Magnitude | 3 |
aka NM_016034.4(MRPS2):c.328C>T or (p.Arg110Cys)
OMIM pathogenic variant; considered pathogenic for combined oxidative phosphorylation deficiency-36 (COXPD36), a recessively inherited condition
