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
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Evidence compiled by the Personal Genome Project
||Low clinical importance, Uncertain benign
||One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.
Publications listed by Genome.gov
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Users who share this SNP: