CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
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: rs104893691
rs104893691 		0.925 0.120 3 122257241 missense variant G/A snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893693
rs104893693 		0.925 0.120 3 122284371 missense variant T/A;C snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893695
rs104893695 		0.925 0.120 3 122257249 missense variant C/A snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893696
rs104893696 		0.925 0.120 3 122257277 missense variant T/C snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893697
rs104893697 		0.925 0.120 3 122261606 missense variant G/A snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893698
rs104893698 		0.925 0.120 3 122283789 missense variant T/C snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893699
rs104893699 		0.925 0.120 3 122284272 missense variant T/G snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893701
rs104893701 		0.925 0.120 3 122284317 missense variant T/G snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893702
rs104893702 		0.925 0.120 3 122254330 missense variant A/C snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893703
rs104893703 		0.925 0.120 3 122283800 missense variant C/G snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893705
rs104893705 		0.882 0.120 3 122283896 stop gained C/A;G;T snv 4.0E-06
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs104893706
rs104893706 		0.851 0.240 3 122284482 missense variant C/A snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893707
rs104893707 		1.000 0.080 3 122261588 stop gained C/A;T snv 1.6E-05
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs104893708
rs104893708 		0.851 0.160 3 122257269 missense variant T/C snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893709
rs104893709 		1.000 0.080 3 122257175 stop gained G/T snv
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs104893710
rs104893710 		0.851 0.200 3 122284413 missense variant C/T snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893711
rs104893711 		1.000 0.120 3 122284316 missense variant T/C snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893712
rs104893712 		0.882 0.160 3 122283764 missense variant G/A snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893718
rs104893718 		0.925 0.120 3 122284134 missense variant T/A snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057518933
rs1057518933 		0.851 0.160 3 122284403 missense variant G/A snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057518933
rs1057518933 		0.851 0.160 3 122284403 missense variant G/A snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057518933
rs1057518933 		0.851 0.160 3 122284403 missense variant G/A snv
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057518933
rs1057518933 		0.851 0.160 3 122284403 missense variant G/A snv
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		Neoplasms; Endocrine System Diseases 0.700 0
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: rs1057520791
rs1057520791 		0.882 0.160 3 122284611 missense variant G/A;C snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.700 0