CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: Familial benign hypercalcemia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs193922442
rs193922442 		0.827 0.120 3 122261589 frameshift variant G/- del
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0