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rs111033220(C;T)

From SNPedia
Carrier of a mutation for Pendred syndrome (hearing loss)
Is agenotype
ofrs111033220
GeneSLC26A4
Chromosome7
Position107,690,203
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a mutation for Pendred syndrome (hearing loss)
(T;T) 5 Pendred syndrome (hearing loss)

Unaffected in absence of another SLC26A4 gene mutation; see rs111033220