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rs8192466(T;T)

From SNPedia

uncertain
Is agenotype
ofrs8192466
GeneBDNF, BDNF-AS
Chromosome11
Position27,658,560
mentionedby
Magnitude4
Geno Mag Summary
(C;C) 0 common
(C;T) 2.5 uncertain, probably harmless
(T;T) 4 uncertain

According to ClinVar this is Pathogenic for Congenital central hypoventilation, and according to HapMap it's quite rare. However The heterozygous form seems to be occurring in quite a few Promethease reports from healthy people. We now suspect this is being incorrectly genotyped by 23andMe, but it remains uncertain. If you've found it in your promethease report info@snpedia.com would like to hear from you.