carrier of a Phenylketonuria allele |
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 (I) allele as defined by 23andMe appears to be the pathogenic allele for this phenylketonuria related PKU gene variant.