Links to SNPedia
||Unaffected carrier of an allele associated with vas deferens condition?
||Common in clinvar
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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
||High clinical importance, Likely pathogenic
||Associated with causing congenital bilateral absence of the vas deferens in a recessive manner. Reported cases were compound heterozygous with CFTR-F508Del.
Publications listed by Genome.gov
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Users who share this SNP: