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rs143793815(T;T)

From SNPedia

Argininosuccinate lyase deficiency
Is agenotype
ofrs143793815
GeneASL
Chromosome7
Position66,083,120
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 Unaffected carrier of an argininosuccinate lyase mutation
(T;T) 8 Argininosuccinate lyase deficiency

see discussion at rs143793815 about uncertainty over pathogenicity