PTH1R, parathyroid hormone 1 receptor, 5745

N. diseases: 187; N. variants: 16
Disease: Hypercalcemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434597
rs121434597
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0020437
Disease:
Hypercalcemia 		0.010 GeneticVariation BEFREE The H223R mutation is typically associated with profound hypercalcemia despite low/normal PTH levels. 27410178 2016