HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
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: rs1800562
rs1800562 		0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.100 1.000 12 1998 2007
dbSNP: rs1799945
rs1799945 		0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.070 1.000 7 1999 2002