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rs74315467(C;T)

From SNPedia
Carrier of a metachromatic leukodystrophy mutation
Is agenotype
ofrs74315467
GeneARSA
Chromosome22
Position50,626,877
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a metachromatic leukodystrophy mutation

Unaffected in absence of a second ARSA gene mutation