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rs397514517(A;G)

From SNPedia

carrier of a spinal muscular atrophy disease allele
Is agenotype
ofrs397514517
GeneSMN1
Chromosome5
Position70,238,300
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of a spinal muscular atrophy disease allele

see discussion at SMN1