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.1000T>C | 1000 | T | C | heter | - | MT-RNR1 | SNV | Mt_rRNA |
| m.998A>G | 998 | A | G | homo | - | MT-RNR1 | SNV | Mt_rRNA |
| m.992TA>T | 992 | TA | T | heter | - | MT-RNR1 | deletion | Mt_rRNA |
| m.994A>G | 994 | A | G | homo | - | MT-RNR1 | SNV | Mt_rRNA |
| m.992T>C | 992 | T | C | heter | - | MT-RNR1 | SNV | Mt_rRNA |
| m.991G>A | 991 | G | A | heter | - | MT-RNR1 | SNV | Mt_rRNA |
| m.990T>C | 990 | T | C | homo&heter | rs727503165 | MT-RNR1 | SNV | Mt_rRNA |
| m.988G>A | 988 | G | A | homo&heter | rs879190662 | MT-RNR1 | SNV | Mt_rRNA |
| m.986G>A | 986 | G | A | heter | - | MT-RNR1 | SNV | Mt_rRNA |
| m.983C>T | 983 | C | T | homo | - | MT-RNR1 | SNV | Mt_rRNA |
| m.980T>C | 980 | T | C | homo&heter | rs397515731 | MT-RNR1 | SNV | Mt_rRNA |
| m.976A>G | 976 | A | G | heter | - | MT-RNR1 | SNV | Mt_rRNA |
| m.979C>T | 979 | C | T | homo&heter | rs876657507 | MT-RNR1 | SNV | Mt_rRNA |
| m.973C>T | 973 | C | T | homo | - | MT-RNR1 | SNV | Mt_rRNA |
| m.963C>T | 963 | C | T | homo | - | MT-RNR1 | SNV | Mt_rRNA |