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OBSCN

From SNPedia

is agene
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ClinVarOBSCN
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23andMeOBSCN
# SNPs6
 Max MagnitudeChromosome positionSummary
rs182714476228,377,508
rs374400228,347,383
rs558832375228,374,584
rs711807935228,371,745
rs790234781228,315,865
rs8693129330228,351,314

The OBSCN gene encodes obscurin, a huge sarcomeric protein involved in myofibrillogenesis and the cytoskeleton.

Several OBSCN variants have been reported to lead to left ventricular noncompaction, acting in a dominant manner 10.1016/j.jacc.2016.08.052, including: