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rs117447608(A;G)

From SNPedia
Pathogenicity unclear; possible carrier of a Joubert syndrome mutation
Is agenotype
ofrs117447608
GeneAHI1
Chromosome6
Position135,318,577
mentionedby
Magnitude2
ReputeBad
Geno Mag Summary
(A;G) 2 Pathogenicity unclear; possible carrier of a Joubert syndrome mutation
(G;G) 0 common in clinvar

Unaffected in absence of another AHI1 gene mutation, and even then, see rs117447608 for a discussion of whether the minor allele is pathogenic at all.