Links to SNPedia
||A slightly reduced functionality form of alpha-1 antitrypsin deficiency
||Carrier of a variant in alpha-1 antitrypsin deficiency
||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
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Evidence compiled by the Personal Genome Project
||Low clinical importance, pathogenic
||This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.
Publications listed by Genome.gov
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Users who share this SNP: