rs397514479(A;C)
From SNPedia
Carrier of a coenzyme Q10 deficiency mutation |
Is a | genotype |
of | rs397514479 |
Gene | COQ6, ENTPD5 |
Chromosome | 14 |
Position | 73,961,339 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5.6 | Coenzyme Q10 Deficiency; severity varies |
(A;C) | 3 | Carrier of a coenzyme Q10 deficiency mutation |
(C;C) | 0 | common in clinvar |
Unaffected in absence of a second mutation; see coenzyme Q10 deficiency