Links to SNPedia
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:
There are no PLoS-results yet. Please come back again later.
Publications on this SNP on Mendeley
There are no Mendeley results yet. Please come back again later.
Evidence compiled by the Personal Genome Project
||High clinical importance, Uncertain pathogenic
||Predicted to be damaging, other recessive mutations in this gene cause antitrypsin alpha 1 deficiency, and this variant is mentioned in an online database linking it to this disease.
Publications listed by Genome.gov
There are no results from genome.gov yet. Please come back later.
Users who share this SNP: