Disease: Hypocalciuric hypercalcemia, familial, type 1 ×
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: rs137853095
rs137853095 		0.851 0.160 17 42796244 missense variant C/T snv 1.5E-04 2.4E-04
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007