rs3888511
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs3888511(G;G) |
| Make rs3888511(G;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 961 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3888511 |
| dbSNP (classic) | rs3888511 |
| ClinGen | rs3888511 |
| ebi | rs3888511 |
| HLI | rs3888511 |
| Exac | rs3888511 |
| Gnomad | rs3888511 |
| Varsome | rs3888511 |
| LitVar | rs3888511 |
| Map | rs3888511 |
| PheGenI | rs3888511 |
| Biobank | rs3888511 |
| 1000 genomes | rs3888511 |
| hgdp | rs3888511 |
| ensembl | rs3888511 |
| geneview | rs3888511 |
| scholar | rs3888511 |
| rs3888511 | |
| pharmgkb | rs3888511 |
| gwascentral | rs3888511 |
| openSNP | rs3888511 |
| 23andMe | rs3888511 |
| SNPshot | rs3888511 |
| SNPdbe | rs3888511 |
| MSV3d | rs3888511 |
| GWAS Ctlg | rs3888511 |
| GMAF | 0.01029 |
| Max Magnitude | 0 |
[PMID 15286157
] Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss.
| ClinVar | |
|---|---|
| Risk | rs3888511(C;C) rs3888511(G;G) |
| Alt | rs3888511(C;C) rs3888511(G;G) |
| Reference | Rs3888511(T;T) |
| Significance | Other |
| Disease | not specified Deafness |
| Variation | info |
| Gene | |
| CLNDBN | not specified Deafness, nonsyndromic sensorineural, mitochondrial |
| Reversed | 0 |
| HGVS | NC_012920.1:m.961T>C; NC_012920.1:m.961T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000035061.2, RCV000010264.2, RCV000035062.3, |
