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rs140845195(A;C)

From SNPedia
Carrier of a pyridoxine-dependent epilepsy mutation
Is agenotype
ofrs140845195
GeneALDH7A1
Chromosome5
Position126,545,020
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;C) 3 Carrier of a pyridoxine-dependent epilepsy mutation
(C;C) 0 common in clinvar

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