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.1978A>C | rs Id | - |
|---|---|---|---|
| Position | 1978 | Variant Type | SNV |
| Ref | A | Ensembl Gene | ENSG00000210082 |
| Alt | C | Gene Symbol | MT-RNR2 |
| AC hom | 3 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0.000412882 | Impact Condon | - |
| AC het | 0 | IMPACT | MODIFIER |
| AF het | 0 | BioType | Mt_rRNA |
| AN | 7266 | SIFT | - |
| AF | 0.000412882 | PolyPen | - |
| Heteroplasmic Level | homo | CLIN_SIG | - |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 2 | 0.0000354396 |
| Heteroplasmic | 0 | 0 | |
| Total | 56434 | 0.00003544 | |
| HelixMTdb | Homoplasmic | 31 | 0.000158177 |
| Heteroplasmic | 0 | 0 | |
| 1KGP3 | AMR | 0 | 0 |
| AFR | 0 | 0 | |
| EAS | 0 | 0 | |
| EUR | 0 | 0 | |
| SAS | 1 | 0.00202429 | |
| Total | 1 | 0.000394633 |