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.1555A>G | rs Id | rs267606617 |
|---|---|---|---|
| Position | 1555 | Variant Type | SNV |
| Ref | A | Ensembl Gene | ENSG00000211459 |
| Alt | G | Gene Symbol | MT-RNR1 |
| AC hom | 5 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0.000688137 | Impact Condon | - |
| AC het | 1 | IMPACT | MODIFIER |
| AF het | 0.000137627 | BioType | Mt_rRNA |
| AN | 7266 | SIFT | - |
| AF | 0.000825764 | PolyPen | - |
| Heteroplasmic Level | homo&heter | CLIN_SIG | pathogenic,pathogenic,_drug_response,drug_response |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | 63 | 0.001117 |
| Heteroplasmic | 11 | 0.000195032 | |
| Total | 56401 | 0.00131203 | |
| HelixMTdb | Homoplasmic | 246 | 0.00125521 |
| Heteroplasmic | 51 | 0.000260227 | |
| 1KGP3 | AMR | ||
| AFR | |||
| EAS | |||
| EUR | |||
| SAS | |||
| Total |