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rs113624356(G;T)

From SNPedia
Carrier of a Bardet-Biedl syndrome 1 mutation
Is agenotype
ofrs113624356
GeneBBS1, ZDHHC24
Chromosome11
Position66,526,181
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(G;G) 5 Bardet-Biedl syndrome 1 (reported)
(G;T) 3 Carrier of a Bardet-Biedl syndrome 1 mutation
(T;T) 0 common in clinvar

Unaffected in absence of a second BBS1 gene mutation