{{Rsnum
|rsid=2000974
|Gene=MT-RNR1
|Chromosome=MT
|position=1048
|Orientation=plus
|GMAF=0.029
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=132
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}
{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 95.6 | 0.0 | 4.4
| JPT | 100.0 | 0.0 | 0.0
| YRI | 96.8 | 0.0 | 3.2
| ASW | 0.0 | 0.0 | 0.0
| CHB | 95.6 | 0.0 | 4.4
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{PMID|8254046|OA=1
}} Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

{{PMID|15841390|OA=1
}} Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.

{{PMID|16172508|OA=1
}} The role of selection in the evolution of human mitochondrial genomes.

{{ClinVar
|ALT=T
|CAF=0.971; 0.029
|CHROM=MT
|CLNACC=RCV000035028.1
|CLNALLE=1
|CLNDBN=AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
|CLNHGVS=NC_012920.1:m.1048C>T
|CLNORIGIN=1
|CLNSIG=2
|COMMON=1
|Disease=AllHighlyPenetrant
|FwdALT=T
|FwdREF=C
|REF=C
|RSPOS=1048
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;OTHERKG;LSD
|VC=SNV
|VP=0x050168000000150502100100
|WGT=0
|dbSNPBuildID=92
|rsid=2000974
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}