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User:Moonspeak - we welcome edits, but as you realize, they are reviewed, and it's not clear to us why the recent edit of yours to this SNP (rs743616) was made. The SNP is tagged as benign in the most recent ClinVar listing, and the variant allele is far more common in most populations (especially Caucasians) than would be the case for a pathogenic allele with even moderate penetrance for this disorder, consistent with the ClinVar designation of being a benign polymorphism. Note also the additional annotation (in the Venter dataset) indicating the variant is a "tolerated" variant.

If you are aware of some other information supporting pathogenicity for this SNP, please indicate what it is along with a citation. Thanks. Greg (talk) 04:28, 4 January 2016 (UTC)