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rs28929474(A;G)

From SNPedia

carrier for Alpha-1 Antitrypsin Deficiency
Is agenotype
ofrs28929474
GeneSERPINA1
Chromosome14
Position94,378,610
mentionedby
Magnitude2
ReputeBad
Geno Mag Summary
(A;A) 4 Alpha-1 Antitrypsin Deficiency
(A;G) 2 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.

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]

http://omim.org/entry/107400#0011