| common/normal UNLESS DATA IS NOT FROM 23andME |
| Geno
|
Mag
|
Summary
|
| (-;-)
|
6
|
Phenylketonuria
|
| (-;T)
|
3
|
Carrier of a phenylketonuria mutation
|
| (D;D)
|
0
|
common/normal UNLESS DATA IS NOT FROM 23andME
|
| (D;I)
|
3
|
carrier of a Phenylketonuria allele
|
| (I;I)
|
6
|
Phenylketonuria - ONLY IF DATA IS FROM 23andMe
|
| (T;T)
|
0
|
common in clinvar
|
In dbSNP, the variant/pathogenic allele for rs62642941 is the deletion allele. However, even though they use the same identifier, the (D;D) genotype as defined by 23andMe is actually the normal (reference) genotype for this phenylketonuria related PKU gene variant. All other companies correctly assign this (D;D) genotype as being magnitude 6, pathogenic for phenylketonuria.
