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.16A>T | rs Id | rs1556422363 |
|---|---|---|---|
| Position | 16 | Variant Type | SNV |
| Ref | A | Ensembl Gene | - |
| Alt | T | Gene Symbol | - |
| AC hom | 17 | Exon Function | intergenic_variant |
| AF hom | 0.00233966 | Impact Condon | - |
| AC het | 1 | IMPACT | MODIFIER |
| AF het | 0.000137627 | BioType | - |
| AN | 7266 | SIFT | - |
| AF | 0.00247729 | PolyPen | - |
| Heteroplasmic Level | homo&heter | CLIN_SIG | - |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 50 | 0.000886054 |
| Heteroplasmic | 0 | 0 | |
| Total | 56430 | 0.000886054 | |
| HelixMTdb | Homoplasmic | 273 | 0.00139298 |
| Heteroplasmic | 4 | 0.0000204099 | |
| 1KGP3 | AMR | 0 | 0 |
| AFR | 0 | 0 | |
| EAS | 1 | 0.00194175 | |
| EUR | 0 | 0 | |
| SAS | 2 | 0.00404858 | |
| Total | 3 | 0.0011839 |