Variant: rs1057520791 

    present in Gene: CASR
    present in Chromosome: 3
    Position on Chromosome: 122284611
    Alleles of this Variant: G/A;C

rs1057520791 in CASR gene and Familial benign hypercalcemia PMID 20798521 2010 Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motif.

rs1057520791 in CASR gene and Hypoparathyroidism - autosomal dominant PMID 20798521 2010 Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motif.