NyuWa mtDNA Variants Resource
A resource of high-quality mtDNA variants in 7,324 samples, comprising 4,122 Chinese samples (NyuWa) and 3,202 samples from the 1000 Genomes Project (1KGP) using high-depth whole genome sequencing data.
A resource of high-quality mtDNA variants in 7,324 samples, comprising 4,122 Chinese samples (NyuWa) and 3,202 samples from the 1000 Genomes Project (1KGP) using high-depth whole genome sequencing data.
| Id | Position | Ref | Alt | Level | dbSNP Id | Gene Symbol | Gene Type | Biotype |
|---|---|---|---|---|---|---|---|---|
| m.4325A>G | 4325 | A | G | homo | - | MT-TI | SNV | Mt_tRNA |
| m.4317A>G | 4317 | A | G | homo | rs121434465 | MT-TI | SNV | Mt_tRNA |
| m.4316A>G | 4316 | A | G | homo | rs876661360 | MT-TI | SNV | Mt_tRNA |
| m.4315A>AT | 4315 | A | AT | homo | - | MT-TI | insertion | Mt_tRNA |
| m.4314TA>T | 4314 | TA | T | homo | rs876661361 | MT-TI | deletion | Mt_tRNA |
| m.4314T>C | 4314 | T | C | homo&heter | - | MT-TI | SNV | Mt_tRNA |
| m.4313T>C | 4313 | T | C | homo | - | MT-TI | SNV | Mt_tRNA |
| m.4312CT>C | 4312 | CT | C | homo | - | MT-TI | deletion | Mt_tRNA |
| m.4312C>T | 4312 | C | T | homo | rs193303033 | MT-TI | SNV | Mt_tRNA |
| m.4304A>G | 4304 | A | G | heter | - | MT-TI | SNV | Mt_tRNA |
| m.4310A>G | 4310 | A | G | homo&heter | rs1556422841 | MT-TI | SNV | Mt_tRNA |
| m.4295A>G | 4295 | A | G | homo | rs121434467 | MT-TI | SNV | Mt_tRNA |
| m.4277T>C | 4277 | T | C | homo | rs876661358 | MT-TI | SNV | Mt_tRNA |
| m.4275G>A | 4275 | G | A | heter | - | MT-TI | SNV | Mt_tRNA |
| m.4269A>G | 4269 | A | G | heter | rs121434466 | MT-TI | SNV | Mt_tRNA |