rs201858689, CASR

N. diseases: 3
Disease: Hyperparathyroidism ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperparathyroidism
CUI: C0020502
Disease: Hyperparathyroidism
0.010 GeneticVariation BEFREE The NSHPT associated with biallelic Gly768Val mutations of the CASR in two siblings with severe hypercalcemia and hyperparathyroidism and their clinically and biochemically normal heterozygous parents was transmitted as an autosomal recessive disorder in this family. 24854525 2014