rs121964978(C;C)
From SNPedia
Glycine encephalopathy; Non-ketotic hyperglycinemia |
Is a | genotype |
of | rs121964978 |
Gene | GLDC |
Chromosome | 9 |
Position | 6,645,498 |
mentioned | by |
Magnitude | 8.8 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 8.8 | Glycine encephalopathy; Non-ketotic hyperglycinemia |
(C;T) | 3 | Carrier of a glycine encephalopathy mutation |
(T;T) | 0 | common in clinvar |
see associated ClinVar and OMIM entries