NyuWa mtDNA Variants Resource
A resource of high-quality mtDNA variants in 3,970 Chinese individuals (from NyuWa Project) using high-depth whole genome sequencing data.
A resource of high-quality mtDNA variants in 3,970 Chinese individuals (from NyuWa Project) using high-depth whole genome sequencing data.
| Id | m.4295A>G | rs Id | rs121434467 |
|---|---|---|---|
| Position | 4295 | Variant Type | SNV |
| Ref | A | Ensembl Gene | ENSG00000210100 |
| Alt | G | Gene Symbol | MT-TI |
| AC hom | 2 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0.000275255 | Impact Condon | - |
| AC het | 0 | IMPACT | MODIFIER |
| AF het | 0 | BioType | Mt_tRNA |
| AN | 7266 | SIFT | - |
| AF | 0.000275255 | PolyPen | - |
| Heteroplasmic Level | homo | CLIN_SIG | pathogenic,benign,uncertain_significance |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 167 | 0.00295937 |
| Heteroplasmic | 0 | 0 | |
| Total | 56431 | 0.00295937 | |
| HelixMTdb | Homoplasmic | 923 | 0.00470959 |
| Heteroplasmic | 5 | 0.0000255124 | |
| 1KGP3 | AMR | 0 | 0 |
| AFR | 0 | 0 | |
| EAS | 0 | 0 | |
| EUR | 2 | 0.0039604 | |
| SAS | 0 | 0 | |
| Total | 2 | 0.000789266 |