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rs28942074(G;T)

From SNPedia
Carrier of a Wilson's disease mutation
Is agenotype
ofrs28942074
GeneATP7B
Chromosome13
Position51,958,333
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;G) 3 Carrier of a Wilson disease mutation
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a Wilson's disease mutation
(T;T) 5.7 Wilson's disease; variable age of onset

Unaffected in absence of a second pathogenic mutation; see Wilson's disease and ATP7B