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rs138043021(C;G)

From SNPedia
Carrier of a Bardet-Biedl syndrome 2 mutation
Is agenotype
ofrs138043021
GeneBBS2
Chromosome16
Position56,496,982
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a Bardet-Biedl syndrome 2 mutation

Unaffected in absence of a second BBS2 gene mutation