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rs796052260(A;C)

From SNPedia
Carrier of a pyridoxine-dependent epilepsy mutation
Is agenotype
ofrs796052260
GeneALDH7A1
Chromosome5
Position126,568,304
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 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