rs147077598(C;G)
From SNPedia
unaffected carrier of rare mutation |
Is a | genotype |
of | rs147077598 |
Gene | DARS |
Chromosome | 2 |
Position | 135,907,342 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 5 | likely hypomyelination with brainstem and spinal cord involvement and leg spasticity |
(C;G) | 3 | unaffected carrier of rare mutation |
(G;G) | 0 | common |