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rs137853022(C;G)

From SNPedia
carrier of familial dysautonomia mutation
Is agenotype
ofrs137853022
GeneIKBKAP
Chromosome9
Position108,900,303
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 7.7 Familial dysautonomia
(C;G) 3 carrier of familial dysautonomia mutation
(G;G) 0 common in clinvar

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