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rs121964978(C;C)

From SNPedia
Glycine encephalopathy; Non-ketotic hyperglycinemia
Is agenotype
ofrs121964978
GeneGLDC
Chromosome9
Position6,645,498
mentionedby
Magnitude8.8
ReputeBad
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