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rs2000974

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs2000974(C;T)
Make rs2000974(T;T)
ReferenceGRCh37 37.1/132
ChromosomeMT
Position1048
GeneMT-RNR1
is asnp
is mentioned by
dbSNPrs2000974
ebirs2000974
HLIrs2000974
Exacrs2000974
Varsomers2000974
Maprs2000974
PheGenIrs2000974
hapmaprs2000974
1000 genomesrs2000974
hgdprs2000974
ensemblrs2000974
gopubmedrs2000974
geneviewrs2000974
scholarrs2000974
googlers2000974
pharmgkbrs2000974
gwascentralrs2000974
openSNPrs2000974
23andMers2000974
23andMe allrs2000974
SNP Nexus

SNPshotrs2000974
SNPdbers2000974
MSV3drs2000974
GWAS Ctlgrs2000974
GMAF0.029
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 8254046OA-icon.png] Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

[PMID 15841390OA-icon.png] Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.

[PMID 16172508OA-icon.png] The role of selection in the evolution of human mitochondrial genomes.


ClinVar
Risk rs2000974(T;T)
Alt rs2000974(T;T)
Reference rs2000974(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene
CLNDBN not specified
Reversed 0
HGVS NC_012920.1:m.1048C>T
CLNSRC
CLNACC RCV000035028.2,