rs111033640(-;GTCA)
From SNPedia
| carrier of a Duarte galactosemia allele |
| Is a | genotype |
| of | rs111033640 |
| Gene | GALT |
| Chromosome | 9 |
| Position | 34,646,586 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 7 | Galactosemia (homozygous Duarte mutation) |
| (-;GTCA) | 3 | carrier of a Duarte galactosemia allele |
| (CAGT;CAGT) | 0 | common in clinvar |
The deletion allele of this SNP is the causal mutation in Duarte galactosemia.
