rs121964979(T;T)
From SNPedia
Glycine encephalopathy; Non-ketotic hyperglycinemia |
Is a | genotype |
of | rs121964979 |
Gene | GLDC |
Chromosome | 9 |
Position | 6,595,109 |
mentioned | by |
Magnitude | 8.8 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a glycine encephalopathy mutation |
(T;T) | 8.8 | Glycine encephalopathy; Non-ketotic hyperglycinemia |
see associated ClinVar and OMIM entries