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.988G>A | rs Id | rs879190662 |
|---|---|---|---|
| Position | 988 | Variant Type | SNV |
| Ref | G | Ensembl Gene | ENSG00000211459 |
| Alt | A | Gene Symbol | MT-RNR1 |
| AC hom | 4 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0.000550509 | Impact Condon | - |
| AC het | 1 | IMPACT | MODIFIER |
| AF het | 0.000137627 | BioType | Mt_rRNA |
| AN | 7266 | SIFT | - |
| AF | 0.000688137 | PolyPen | - |
| Heteroplasmic Level | homo&heter | CLIN_SIG | - |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 36 | 0.000638219 |
| Heteroplasmic | 2 | 0.0000354566 | |
| Total | 56407 | 0.000673675 | |
| HelixMTdb | Homoplasmic | 237 | 0.00120929 |
| Heteroplasmic | 5 | 0.0000255124 | |
| 1KGP3 | AMR | 0 | 0 |
| AFR | 0 | 0 | |
| EAS | 0 | 0 | |
| EUR | 1 | 0.0019802 | |
| SAS | 0 | 0 | |
| Total | 1 | 0.000394633 |