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rs138249161(A;T)

From SNPedia

carrier of one hypomyelinating leukodystrophy allele
Is agenotype
ofrs138249161
GenePOLR3B
Chromosome12
Position106,432,421
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 6 Hypomyelinating leukodystrophy, type 8
(A;T) 3 carrier of one hypomyelinating leukodystrophy allele
(T;T) 0 common in clinvar

Unaffected unless also carrying another defective allele; see discussion at rs138249161.