rs786201005(C;T)
From SNPedia
| Carrier of an immunodeficiency mutation |
| Is a | genotype |
| of | rs786201005 |
| Gene | ISG15 |
| Chromosome | 1 |
| Position | 1,014,143 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;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 |
Unaffected in absence of a second mutation in the ISG15 gene
