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rs864622557(G;T)

From SNPedia
Carrier of a pyridoxine-dependent epilepsy mutation
Is agenotype
ofrs864622557
GeneALDH7A1
Chromosome5
Position126,554,294
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a pyridoxine-dependent epilepsy mutation

Unaffected in absence of a second mutation in the ALDH7A1 gene; see text and links via main rs-page