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.4310A>G | rs Id | rs1556422841 |
|---|---|---|---|
| Position | 4310 | Variant Type | SNV |
| Ref | A | Ensembl Gene | ENSG00000210100 |
| Alt | G | Gene Symbol | MT-TI |
| AC hom | 7 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0.000963391 | Impact Condon | - |
| AC het | 2 | IMPACT | MODIFIER |
| AF het | 0.000275255 | BioType | Mt_tRNA |
| AN | 7266 | SIFT | - |
| AF | 0.00123865 | PolyPen | - |
| Heteroplasmic Level | homo&heter | CLIN_SIG | - |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 58 | 0.00102795 |
| Heteroplasmic | 2 | 0.0000354465 | |
| Total | 56423 | 0.0010634 | |
| HelixMTdb | Homoplasmic | 212 | 0.00108173 |
| Heteroplasmic | 4 | 0.0000204099 | |
| 1KGP3 | AMR | 1 | 0.00284091 |
| AFR | 1 | 0.00149701 | |
| EAS | 0 | 0 | |
| EUR | 0 | 0 | |
| SAS | 0 | 0 | |
| Total | 2 | 0.000789266 |