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rs104894299(A;C)

From SNPedia

carrier of one Myasthenic syndrome allele
Is agenotype
ofrs104894299
GeneRAPSN
Chromosome11
Position47,448,079
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 6 Congenital myasthenic syndrome
(A;C) 3 carrier of one Myasthenic syndrome allele
(C;C) 0 common in clinvar

see discussion at rs104894299