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:
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Publications on this SNP on Mendeley
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Evidence compiled by the Personal Genome Project
||Insufficiently evaluated pathogenic
||This was observed in a patient with distal renal tubular acidosis, but frequency in 1000 genomes and HapMap (7% and 12.5%) means this variant is likely benign. Distal renal tubular acidosis occurs when the alpha intercalated cells of the cortical collecting duct fail to secrete acid, and consequently, the body retains such acid. The acid retention in turn givew rise to symptoms such as hypokalemia, Urinary stone formation, nephrocalcinosis (deposition of calcium in the substance of the kidney), and bone demineralisation (causing rickets in children and osteomalacia in adults).
Publications listed by Genome.gov
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Users who share this SNP: