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.1999A>G | rs Id | - |
|---|---|---|---|
| Position | 1999 | Variant Type | SNV |
| Ref | A | Ensembl Gene | ENSG00000210082 |
| Alt | G | Gene Symbol | MT-RNR2 |
| AC hom | 0 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0 | Impact Condon | - |
| AC het | 4 | IMPACT | MODIFIER |
| AF het | 0.000550509 | BioType | Mt_rRNA |
| AN | 7266 | SIFT | - |
| AF | 0.000550509 | PolyPen | - |
| Heteroplasmic Level | heter | CLIN_SIG | - |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 1 | 0.0000177311 |
| Heteroplasmic | 4 | 0.0000709245 | |
| Total | 56398 | 0.000088656 | |
| HelixMTdb | Homoplasmic | 1 | 0.00000510248 |
| Heteroplasmic | 7 | 0.0000357174 | |
| 1KGP3 | AMR | ||
| AFR | |||
| EAS | |||
| EUR | |||
| SAS | |||
| Total |