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.1553A>G | rs Id | rs879186112 |
|---|---|---|---|
| Position | 1553 | Variant Type | SNV |
| Ref | A | Ensembl Gene | ENSG00000211459 |
| Alt | G | Gene Symbol | MT-RNR1 |
| AC hom | 0 | Exon Function | non_coding_transcript_exon_variant |
| AF hom | 0 | Impact Condon | - |
| AC het | 1 | IMPACT | MODIFIER |
| AF het | 0.000137627 | BioType | Mt_rRNA |
| AN | 7266 | SIFT | - |
| AF | 0.000137627 | PolyPen | - |
| Heteroplasmic Level | heter | CLIN_SIG | - |
| Dataset | Level/Population | AC | AF |
|---|---|---|---|
| gnomAD | Homoplasmic | ||
| Heteroplasmic | |||
| Total | |||
| HelixMTdb | Homoplasmic | 0 | 0 |
| Heteroplasmic | 2 | 0.000010205 | |
| 1KGP3 | AMR | ||
| AFR | |||
| EAS | |||
| EUR | |||
| SAS | |||
| Total |