Links to SNPedia
Title |
Summary |
rs28929474 A/A
|
Alpha-1 antitrypsin deficiency
|
rs28929474 A/G
|
Carrier for alpha-1 antitrypsin deficiency
}}
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 |
rs28929474 G/G
|
Common in complete genomics |
Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).
Publications on this SNP on the Public Library of Science:
Publications on this SNP on Mendeley
Evidence compiled by the Personal Genome Project
There are no results from the Personal Genome Project yet. Please come back later.
Publications listed by Genome.gov
There are no results from genome.gov yet. Please come back later.
Users who share this SNP: