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.990T>C | rs Id | rs727503165 |
|---|---|---|---|
| Position | 990 | Variant Type | SNV |
| Ref | T | Ensembl Gene | ENSG00000211459 |
| Alt | C | Gene Symbol | MT-RNR1 |
| AC hom | 9 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0.00123865 | Impact Condon | - |
| AC het | 1 | IMPACT | MODIFIER |
| AF het | 0.000137627 | BioType | Mt_rRNA |
| AN | 7266 | SIFT | - |
| AF | 0.00137627 | PolyPen | - |
| Heteroplasmic Level | homo&heter | CLIN_SIG | likely_benign |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 85 | 0.00150632 |
| Heteroplasmic | 3 | 0.0000531642 | |
| Total | 56429 | 0.00155948 | |
| HelixMTdb | Homoplasmic | 111 | 0.000566376 |
| Heteroplasmic | 9 | 0.0000459224 | |
| 1KGP3 | AMR | 0 | 0 |
| AFR | 6 | 0.00898204 | |
| EAS | 0 | 0 | |
| EUR | 0 | 0 | |
| SAS | 0 | 0 | |
| Total | 6 | 0.0023678 |