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rs556400964(C;G)

From SNPedia
Carrier of a pyridoxine-dependent epilepsy mutation
Is agenotype
ofrs556400964
GeneALDH7A1
Chromosome5
Position126,546,376
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 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