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: rs1057520791
rs1057520791 		0.882 0.160 3 122284611 missense variant G/A;C snv
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 1.000 1 2010 2010
dbSNP: rs104893705
rs104893705 		0.882 0.120 3 122283896 stop gained C/A;G;T snv 4.0E-06
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs767363250
rs767363250 		0.827 0.280 3 122283992 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs201633414
rs201633414 		0.925 0.160 3 122254262 stop gained C/A;T snv 8.0E-06
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 1.000 2 2006 2011
dbSNP: rs1085307984
rs1085307984 		0.925 0.160 3 122261714 stop gained C/A;G;T snv 4.0E-06; 4.0E-06
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 1.000 3 2011 2016
dbSNP: rs1482119762
rs1482119762 		0.851 0.200 3 122261693 missense variant C/A;T snv 4.0E-06; 4.0E-06
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 1.000 4 1991 2007
dbSNP: rs121909258
rs121909258 		0.882 0.160 3 122284337 missense variant C/T snv 7.0E-06
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 1.000 6 1993 2011
dbSNP: rs28936684
rs28936684 		0.827 0.160 3 122261715 missense variant G/A;T snv 4.0E-06
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 1.000 8 1992 2016
dbSNP: rs886041154
rs886041154 		0.882 0.160 3 122254353 missense variant C/T snv
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 1.000 9 1995 2014