rs8192466(T;T)
From SNPedia
| uncertain |
| Is a | genotype |
| of | rs8192466 |
| Gene | BDNF, BDNF-AS |
| Chromosome | 11 |
| Position | 27,658,560 |
| mentioned | by |
| Magnitude | 4 |
| 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.
