SNP rs61749665

Basic Information
Name rs61749665
Chromosome 17
Position 8003201
Weight of evidence 9
Additional Information

Links to SNPedia

Title Summary
rs61749665 G/G Common in clinvar
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:

First Author Title Year of Publication # of readers
Anshuman Verma Mutational Screening of LCA Genes Emphasizing RPE65 in South Indian Cohort of Patients 2013 3515

Publications on this SNP on Mendeley

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Evidence compiled by the Personal Genome Project

Gene Impact Trait Summary Inheritance
GUCY2D 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. recessive

Publications listed by

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Users who share this SNP:

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