Variant: rs869320738 

    present in Gene: CRACR2B;PNPLA2
    present in Chromosome: 11
    Position on Chromosome: 823588
    Alleles of this Variant: G/T

rs869320738 in CRACR2B;PNPLA2 gene and Neutral Lipid Storage Disease with Myopathy PMID 28499397 2017 Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.

PMID 22832386 2012 Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.

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