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rs104893935(C;G)

From SNPedia

carrier of a spinal muscular atrophy disease allele
Is agenotype
ofrs104893935
GeneSMN1
Chromosome5
Position70,238,243
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 carrier of a spinal muscular atrophy disease allele
(G;G) 6 Spinal muscular atrophy, type 1 or 2

see discussion at rs104893935