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rs74315455(A;G)

From SNPedia
Carrier of a metachromatic leukodystrophy mutation
Is agenotype
ofrs74315455
GeneARSA
Chromosome22
Position50,627,329
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;G) 3 Carrier of a metachromatic leukodystrophy mutation
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a metachromatic leukodystrophy mutation

Unaffected in absence of a second ARSA gene mutation