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.16566G>A | rs Id | - |
|---|---|---|---|
| Position | 16566 | Variant Type | SNV |
| Ref | G | Ensembl Gene | - |
| Alt | A | Gene Symbol | - |
| AC hom | 2 | Exon Function | intergenic_variant |
| AF hom | 0.000275255 | Impact Condon | - |
| AC het | 0 | IMPACT | MODIFIER |
| AF het | 0 | BioType | - |
| AN | 7266 | SIFT | - |
| AF | 0.000275255 | PolyPen | - |
| Heteroplasmic Level | homo | CLIN_SIG | - |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 7 | 0.000124039 |
| Heteroplasmic | 0 | 0 | |
| Total | 56434 | 0.000124039 | |
| HelixMTdb | Homoplasmic | 32 | 0.000163279 |
| Heteroplasmic | 4 | 0.0000204099 | |
| 1KGP3 | AMR | ||
| AFR | |||
| EAS | |||
| EUR | |||
| SAS | |||
| Total |