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rs11539445(A;G)

From SNPedia

carrier of a mitochondrial respiratory chain (RC) disorder allele
Is agenotype
ofrs11539445
GeneYARS2
Chromosome12
Position32,755,303
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 6 Mitochondrial respiratory chain (RC) disorder allele
(A;G) 3 carrier of a mitochondrial respiratory chain (RC) disorder allele
(G;G) 0 common in clinvar
(G;T) 0 likely to be benign
(T;T) 0 likely to be benign

Unless inherited along with a different defective allele in the same gene, this genotype indicates being an unaffected carrier of one defective allele reported to lead to a mitochondrial respiratory chain (RC) disorder known as Myopathy, Lactic Acidosis, Sideroblastic Anaemia (MLASA). See further discussion at rs11539445.