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rs121964976(C;C)

From SNPedia

Glycine encephalopathy; Non-ketotic hyperglycinemia
Is agenotype
ofrs121964976
GeneGLDC
Chromosome9
Position6,589,230
mentionedby
Magnitude8.8
ReputeBad
Geno Mag Summary
(C;C) 8.8 Glycine encephalopathy; Non-ketotic hyperglycinemia
(C;G) 3 Carrier of a glycine encephalopathy mutation
(G;G) 0 common in clinvar

see associated ClinVar and OMIM entries