Variant: rs796065303 

    present in Gene: PNPLA2;CRACR2B
    present in Chromosome: 11
    Position on Chromosome: 823740
    Alleles of this Variant: C/-

rs796065303 in PNPLA2;CRACR2B gene and Neutral Lipid Storage Disease with Myopathy PMID 23449549 2013 Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy.

PMID 23232698 2013 Symptomatic lipid storage in carriers for the PNPLA2 gene.

PMID 17187067 2007 The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.