rs11539445(A;A)
From SNPedia
| Mitochondrial respiratory chain (RC) disorder allele |
| Is a | genotype |
| of | rs11539445 |
| Gene | YARS2 |
| Chromosome | 12 |
| Position | 32,755,303 |
| mentioned | by |
| Magnitude | 6 |
| Repute | Bad |
| 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 |
This genotype is predicted to lead to a mitochondrial respiratory chain (RC) disorder known as Myopathy, Lactic Acidosis, Sideroblastic Anaemia (MLASA). See further discussion at rs11539445.
