rs397507168(A;G)
From SNPedia
| Carrier of a Hermansky-Pudlak syndrome 3 mutation |
| Is a | genotype |
| of | rs397507168 |
| Gene | CP, HPS3 |
| Chromosome | 3 |
| Position | 149,163,840 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a Hermansky-Pudlak syndrome 3 mutation |
Unaffected in absence of a second HPS3 gene mutation
