Have data from 23andMe or Ancestry? Make a report automatically with Promethease !


From SNPedia

Sorry for the anonymous edits on CYP2D6 related information. I guess I'm still trying to piece that together, too. For everyone I have data on, Rs5030655 is II on 23andme. It wasn't one of the listed genotype options, so I was trying to figure if it was a match for this (on the CYP2D6 page):

CYP2D6*6                1707delT        rs5030655       118frameshift   none    23andMe v1, 23andMe v2, 23andMe v3

The listed Genotypes are (-;-), (-,T), and (T;T). But we're all (I,I), so I wasn't sure if it was a match or not.

23andMe prefers to use 'D' to indicate a deletion, and 'I' to indicate an insertion. SNPedia & dbSNP use '-' to indicate a deletion, and the actual letters to indicate the insertion.
This prevents the ambiguity in the rare cases where a single rs# has more than one possible insertion, such as with rs332. 23andMe's notation would be ambiguous there, which they would probably resolve by introducing multiple I### identifiers for each of the possible insertion texts. I'm not yet aware of any case where this has actually come up.
23andMe SNPedia
rs5030655 II rs5030655(T;T)
rs5030655 DI rs5030655(-;T)
rs5030655 DD rs5030655(-;-)
The good news is that Promethease handles this mess for you automatically and correctly.