CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: 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: rs104893689
rs104893689 		0.790 0.200 3 122261589 missense variant G/A;C snv
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		Nutritional and Metabolic Diseases 0.700 1.000 4 1976 2004
dbSNP: rs1057518933
rs1057518933 		0.851 0.160 3 122284403 missense variant G/A snv
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1042636
rs1042636 		0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121909262
rs121909262 		0.851 0.120 3 122254304 missense variant C/G;T snv
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1801725
rs1801725 		0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs201858689
rs201858689 		0.882 0.120 3 122284257 missense variant G/T snv 2.8E-05
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014