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i5012558(C;T)

From SNPedia

Familial Hyperinsulinism carrier
is agenotype
ofI5012558
mentionedby
Magnitude2.8
ReputeBad
Geno Mag Summary
(C;C) 0 normal
(C;T) 2.8 Familial Hyperinsulinism carrier
(T;T) 4 Familial Hyperinsulinism (ABCC8-related)

One out of 60 Ashkenazi Jewish individuals has this mutation linked to familial hyperinsulinism.