rs72552725(G;G)
From SNPedia
| Systemic primary carnitine deficiency (predicted) |
| Is a | genotype |
| of | rs72552725 |
| Gene | SLC22A5, LOC553103 |
| Chromosome | 5 |
| Position | 132,370,067 |
| mentioned | by |
| Magnitude | 7 |
| 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) |
G/G homozygotes suffer from systemic primary carnitine deficiency, an autosomal recessive Mendelian disease that can lead to early death (if untreated).
