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rs144701796(A;T)

From SNPedia
Carrier of a pyridoxine-dependent epilepsy mutation
Is agenotype
ofrs144701796
GeneALDH7A1
Chromosome5
Position126,549,976
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;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