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
||High clinical importance, Uncertain pathogenic
||Limb-Girdle Muscular Dystrophy Type 1C
||This variant has been implicated in causing limb-girdle dystrophy in a recessive manner, but it has only been seen homozygously once in a single patient and has been seen heterozygously in controls, so case/control data lacks significance.
Publications listed by Genome.gov
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Users who share this SNP: