Variant: rs756205397

present in Gene: ABHD12B;PYGL present in Chromosome: 14 Position on Chromosome: 50905469 Alleles of this Variant: G/A;C

rs756205397 in ABHD12B;PYGL gene and Glycogen Storage Disease Type VI PMID 22899091 2013 Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.