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.4314TA>T | rs Id | rs876661361 |
|---|---|---|---|
| Position | 4314 | Variant Type | deletion |
| Ref | TA | Ensembl Gene | ENSG00000210100 |
| Alt | T | Gene Symbol | MT-TI |
| AC hom | 8 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0.00110102 | Impact Condon | - |
| AC het | 0 | IMPACT | MODIFIER |
| AF het | 0 | BioType | Mt_tRNA |
| AN | 7266 | SIFT | - |
| AF | 0.00110102 | PolyPen | - |
| Heteroplasmic Level | homo | CLIN_SIG | - |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 50 | 0.000886054 |
| Heteroplasmic | 1 | 0.0000177211 | |
| Total | 56430 | 0.000903775 | |
| HelixMTdb | Homoplasmic | 60 | 0.000306149 |
| Heteroplasmic | 0 | 0 | |
| 1KGP3 | AMR | ||
| AFR | |||
| EAS | |||
| EUR | |||
| SAS | |||
| Total |