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.2000C>T | rs Id | - |
|---|---|---|---|
| Position | 2000 | Variant Type | SNV |
| Ref | C | Ensembl Gene | ENSG00000210082 |
| Alt | T | Gene Symbol | MT-RNR2 |
| AC hom | 22 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0.0030278 | Impact Condon | - |
| AC het | 0 | IMPACT | MODIFIER |
| AF het | 0 | BioType | Mt_rRNA |
| AN | 7266 | SIFT | - |
| AF | 0.0030278 | PolyPen | - |
| Heteroplasmic Level | homo | CLIN_SIG | - |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 449 | 0.00795648 |
| Heteroplasmic | 0 | 0 | |
| Total | 56432 | 0.00795648 | |
| HelixMTdb | Homoplasmic | 220 | 0.00112255 |
| Heteroplasmic | 10 | 0.0000510248 | |
| 1KGP3 | AMR | 1 | 0.00284091 |
| AFR | 15 | 0.0224551 | |
| EAS | 0 | 0 | |
| EUR | 0 | 0 | |
| SAS | 0 | 0 | |
| Total | 16 | 0.00631413 |