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:
Publications on this SNP on Mendeley
Evidence compiled by the Personal Genome Project
||Insufficiently evaluated pathogenic
||Mannose-Binding Lectin Deficiency
||This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. The wild-type version of this gene is known as variant allele A, while this is called variant allele C. See R52C (variant D) and G54D (variant B).
Publications listed by Genome.gov
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Users who share this SNP: