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.14693A>G | rs Id | rs386829226 |
|---|---|---|---|
| Position | 14693 | Variant Type | SNV |
| Ref | A | Ensembl Gene | ENSG00000210194 |
| Alt | G | Gene Symbol | MT-TE |
| AC hom | 65 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0.00894578 | Impact Condon | - |
| AC het | 1 | IMPACT | MODIFIER |
| AF het | 0.000137627 | BioType | Mt_tRNA |
| AN | 7266 | SIFT | - |
| AF | 0.0090834 | PolyPen | - |
| Heteroplasmic Level | homo&heter | CLIN_SIG | - |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 109 | 0.00193173 |
| Heteroplasmic | 4 | 0.0000708893 | |
| Total | 56426 | 0.00200262 | |
| HelixMTdb | Homoplasmic | 366 | 0.00186751 |
| Heteroplasmic | 11 | 0.0000561273 | |
| 1KGP3 | AMR | 1 | 0.00284091 |
| AFR | 0 | 0 | |
| EAS | 2 | 0.00388349 | |
| EUR | 0 | 0 | |
| SAS | 2 | 0.00404858 | |
| Total | 5 | 0.00197316 |