rs672601312(G;G)
From SNPedia
| common in clinvar |
| Is a | genotype |
| of | rs672601312 |
| Gene | ISG15 |
| Chromosome | 1 |
| Position | 1,014,359 |
| mentioned | by |
| Magnitude | 0 |
| Repute | Good |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of an immunodeficiency mutation |
| (T;T) | 3 | Causes a lack of ISG15 which in turn causes basal ganglia calcification, auto-inflammation and susceptibility to mycobacterial disease |
