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.14692A>G | rs Id | rs879192165 |
|---|---|---|---|
| Position | 14692 | Variant Type | SNV |
| Ref | A | Ensembl Gene | ENSG00000210194 |
| Alt | G | Gene Symbol | MT-TE |
| AC hom | 7 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0.000963391 | Impact Condon | - |
| AC het | 0 | IMPACT | MODIFIER |
| AF het | 0 | BioType | Mt_tRNA |
| AN | 7266 | SIFT | - |
| AF | 0.000963391 | PolyPen | - |
| Heteroplasmic Level | homo | CLIN_SIG | pathogenic |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 1 | 0.0000177198 |
| Heteroplasmic | 1 | 0.0000177198 | |
| Total | 56434 | 0.00003544 | |
| HelixMTdb | Homoplasmic | 18 | 0.0000918447 |
| Heteroplasmic | 2 | 0.000010205 | |
| 1KGP3 | AMR | 0 | 0 |
| AFR | 0 | 0 | |
| EAS | 1 | 0.00194175 | |
| EUR | 0 | 0 | |
| SAS | 0 | 0 | |
| Total | 1 | 0.000394633 |