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rs28939712(C;T)

From SNPedia
carrier of familial dysautonomia mutation
Is agenotype
ofrs28939712
GeneIKBKAP
Chromosome9
Position108,894,062
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of familial dysautonomia mutation
(T;T) 7.7 Familial dysautonomia

Unaffected in absence of another mutation in the IKBKAP gene; see discussion at familial dysautonomia