rs137852700(C;T)
From SNPedia
Neuronal Ceroid Lipofuscinosis carrier |
Is a | genotype |
of | rs137852700 |
Gene | PPT1 |
Chromosome | 1 |
Position | 40,089,495 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Neuronal Ceroid Lipofuscinosis carrier |
(T;T) | 5 | Neuronal Ceroid Lipofuscinosis |
Neuronal ceroid lipofuscinosis (PPT1-related)