CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: Hypoparathyroidism ×
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: rs121909264
rs121909264 		0.851 0.160 3 122257323 missense variant G/A snv
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		Endocrine System Diseases 0.700 1.000 1 1995 1995