rs2000974
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common on affy axiom data |
| Make rs2000974(C;T) |
| Make rs2000974(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 1048 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2000974 |
| dbSNP (classic) | rs2000974 |
| ClinGen | rs2000974 |
| ebi | rs2000974 |
| HLI | rs2000974 |
| Exac | rs2000974 |
| Gnomad | rs2000974 |
| Varsome | rs2000974 |
| LitVar | rs2000974 |
| Map | rs2000974 |
| PheGenI | rs2000974 |
| Biobank | rs2000974 |
| 1000 genomes | rs2000974 |
| hgdp | rs2000974 |
| ensembl | rs2000974 |
| geneview | rs2000974 |
| scholar | rs2000974 |
| rs2000974 | |
| pharmgkb | rs2000974 |
| gwascentral | rs2000974 |
| openSNP | rs2000974 |
| 23andMe | rs2000974 |
| SNPshot | rs2000974 |
| SNPdbe | rs2000974 |
| MSV3d | rs2000974 |
| GWAS Ctlg | rs2000974 |
| GMAF | 0.029 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 8254046
] Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
[PMID 15841390] Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.
[PMID 16172508] The role of selection in the evolution of human mitochondrial genomes.
| ClinVar | |
|---|---|
| Risk | rs2000974(T;T) |
| Alt | rs2000974(T;T) |
| Reference | Rs2000974(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_012920.1:m.1048C>T |
| CLNSRC | |
| CLNACC | RCV000035028.2, |
