rs189840848(C;G)
From SNPedia
Carrier of a coenzyme Q10 deficiency mutation |
Is a | genotype |
of | rs189840848 |
Gene | COQ6, ENTPD5 |
Chromosome | 14 |
Position | 73,958,149 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a coenzyme Q10 deficiency mutation |
(T;T) | 5.6 | Coenzyme Q10 Deficiency; severity varies |
Unaffected in absence of a second mutation; see coenzyme Q10 deficiency