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rs104893930(A;G)

From SNPedia
carrier of a spinal muscular atrophy disease allele
Is agenotype
ofrs104893930
GeneSMN1
Chromosome5
Position70,938,845
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 6 Spinal muscular atrophy, type 2
(A;G) 3 carrier of a spinal muscular atrophy disease allele
(G;G) 0 common in clinvar

see discussion at rs104893930