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.980T>C | rs Id | rs397515731 |
|---|---|---|---|
| Position | 980 | Variant Type | SNV |
| Ref | T | Ensembl Gene | ENSG00000211459 |
| Alt | C | Gene Symbol | MT-RNR1 |
| AC hom | 34 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0.00467933 | Impact Condon | - |
| AC het | 1 | IMPACT | MODIFIER |
| AF het | 0.000137627 | BioType | Mt_rRNA |
| AN | 7266 | SIFT | - |
| AF | 0.00481696 | PolyPen | - |
| Heteroplasmic Level | homo&heter | CLIN_SIG | likely_benign |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 226 | 0.0040056 |
| Heteroplasmic | 4 | 0.0000708956 | |
| Total | 56421 | 0.0040765 | |
| HelixMTdb | Homoplasmic | 763 | 0.00389319 |
| Heteroplasmic | 10 | 0.0000510248 | |
| 1KGP3 | AMR | 0 | 0 |
| AFR | 1 | 0.00149701 | |
| EAS | 3 | 0.00582524 | |
| EUR | 1 | 0.0019802 | |
| SAS | 16 | 0.0323887 | |
| Total | 21 | 0.00828729 |