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.1598G>A | rs Id | rs3135027 |
|---|---|---|---|
| Position | 1598 | Variant Type | SNV |
| Ref | G | Ensembl Gene | ENSG00000211459 |
| Alt | A | Gene Symbol | MT-RNR1 |
| AC hom | 145 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0.019956 | Impact Condon | - |
| AC het | 4 | IMPACT | MODIFIER |
| AF het | 0.000550509 | BioType | Mt_rRNA |
| AN | 7266 | SIFT | - |
| AF | 0.0205065 | PolyPen | - |
| Heteroplasmic Level | homo&heter | CLIN_SIG | benign |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 377 | 0.00668428 |
| Heteroplasmic | 8 | 0.000141841 | |
| Total | 56401 | 0.00682612 | |
| HelixMTdb | Homoplasmic | 1625 | 0.00829154 |
| Heteroplasmic | 34 | 0.000173484 | |
| 1KGP3 | AMR | 1 | 0.00284091 |
| AFR | 2 | 0.00299401 | |
| EAS | 9 | 0.0174757 | |
| EUR | 2 | 0.0039604 | |
| SAS | 20 | 0.0404858 | |
| Total | 34 | 0.0134175 |