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rs121912801(G;T)

From SNPedia

carrier of a myotonia congenita allele; variable in degree
Is agenotype
ofrs121912801
GeneCLCN1
Chromosome7
Position143,339,527
mentionedby
Magnitude2.5
ReputeBad
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 2.5 carrier of a myotonia congenita allele; variable in degree
(T;T) 6 Myotonia congenita; quite variable in degree

see discussion at myotonia congenita