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.14696A>G | rs Id | rs1556424481 |
|---|---|---|---|
| Position | 14696 | Variant Type | SNV |
| Ref | A | Ensembl Gene | ENSG00000210194 |
| Alt | G | Gene Symbol | MT-TE |
| AC hom | 20 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0.00275255 | Impact Condon | - |
| AC het | 0 | IMPACT | MODIFIER |
| AF het | 0 | BioType | Mt_tRNA |
| AN | 7266 | SIFT | - |
| AF | 0.00275255 | PolyPen | - |
| Heteroplasmic Level | homo | CLIN_SIG | - |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 66 | 0.00116965 |
| Heteroplasmic | 2 | 0.000035444 | |
| Total | 56427 | 0.0012051 | |
| HelixMTdb | Homoplasmic | 173 | 0.00088273 |
| Heteroplasmic | 3 | 0.0000153075 | |
| 1KGP3 | AMR | 0 | 0 |
| AFR | 4 | 0.00598802 | |
| EAS | 0 | 0 | |
| EUR | 0 | 0 | |
| SAS | 2 | 0.00404858 | |
| Total | 6 | 0.0023678 |