rs72552725(A;G)
From SNPedia
Carrier of a systemic carnitine deficiency mutation |
Is a | genotype |
of | rs72552725 |
Gene | SLC22A5, LOC553103 |
Chromosome | 5 |
Position | 132,370,067 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of a systemic carnitine deficiency mutation |
(G;G) | 7 | Systemic primary carnitine deficiency (predicted) |
Unaffected in absence of a second SLC22A5 gene mutation