rs28929474(A;G)
From SNPedia
| Carrier for Alpha-1 Antitrypsin Deficiency |
| Is a | genotype |
| of | rs28929474 |
| Gene | SERPINA1 |
| Chromosome | 14 |
| Position | 94,378,610 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5.5 | Alpha-1 Antitrypsin Deficiency |
| (A;G) | 3 | Carrier for Alpha-1 Antitrypsin Deficiency |
| (G;G) | 0 | common in complete genomics |
1 copy of the PI*Z allele, the most common cause of Alpha-1 Antitrypsin Deficiency; likely to be unaffected unless also carrying a PiS allele.
This has been associated with Wegener's Granulomatosis / Granulomatosis with Polyangiitis, a type of Vasculitis. [PMID 9279535] [PMID 7964431][PMID 8889441]
It has also been suggested in small studies that vasculitis may be more severe in patients positive for PiZ allele. [PMID 8889441]
A higher prevalence of the PiZ Allele has also been noted in some small studies of ANCA positive ulcerative colitis. [PMID 10579117]
