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i5003255

From SNPedia

23andMe dataI5003255
23andMe searchI5003255
opensnpI5003255
Gene (via rs)CLCN1
GeneCLCN1
Chromosome7
Position143048886
iGeno Mag Summary
(C;T) 2.5 carrier of a myotonia congenita allele; variable in degree
(T;T) 6 Myotonia congenita; quite variable in degree

aliasrs80356706
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2.5 carrier of a myotonia congenita allele; variable in degree
(T;T) 6 Myotonia congenita; quite variable in degree

Myotonia congenita

rs80356706