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.4314T>C | rs Id | - |
|---|---|---|---|
| Position | 4314 | Variant Type | SNV |
| Ref | T | Ensembl Gene | ENSG00000210100 |
| Alt | C | Gene Symbol | MT-TI |
| AC hom | 12 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0.00165153 | Impact Condon | - |
| AC het | 2 | IMPACT | MODIFIER |
| AF het | 0.000275255 | BioType | Mt_tRNA |
| AN | 7266 | SIFT | - |
| AF | 0.00192678 | PolyPen | - |
| Heteroplasmic Level | homo&heter | CLIN_SIG | - |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 16 | 0.000283542 |
| Heteroplasmic | 3 | 0.0000531642 | |
| Total | 56429 | 0.000336706 | |
| HelixMTdb | Homoplasmic | 55 | 0.000280637 |
| Heteroplasmic | 8 | 0.0000408199 | |
| 1KGP3 | AMR | 0 | 0 |
| AFR | 0 | 0 | |
| EAS | 3 | 0.00582524 | |
| EUR | 0 | 0 | |
| SAS | 0 | 0 | |
| Total | 3 | 0.0011839 |