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rs397514518(C;T)

From SNPedia

carrier of a spinal muscular atrophy disease allele
Is agenotype
ofrs397514518
GeneSMN1
Chromosome5
Position70,238,299
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;T) 3 carrier of a spinal muscular atrophy disease allele
(T;T) 0 common in clinvar

see discussion at SMN1