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: rs1060502855
rs1060502855 		0.882 0.160 3 122261567 missense variant A/G 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 0
dbSNP: rs121909260
rs121909260 		0.882 0.160 3 122257275 missense variant A/C;G 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 0
dbSNP: rs121909264
rs121909264 		0.851 0.160 3 122257323 missense variant G/A 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 0
dbSNP: rs1553731681
rs1553731681 		1.000 0.120 3 122261678 missense variant G/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 0
dbSNP: rs1553766768
rs1553766768 		0.925 0.160 3 122261768 stop gained 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 0
dbSNP: rs1553768972
rs1553768972 		0.925 0.160 3 122283924 frameshift variant C/- delins
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 0
dbSNP: rs193922419
rs193922419 		1.000 0.120 3 122262093 missense variant 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 0
dbSNP: rs193922421
rs193922421 		1.000 0.120 3 122262279 missense variant G/A 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 0
dbSNP: rs193922422
rs193922422 		1.000 0.120 3 122275945 frameshift variant GTTT/- delins
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 0
dbSNP: rs193922423
rs193922423 		0.925 0.120 3 122275959 missense variant G/A 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 0
dbSNP: rs193922424
rs193922424 		1.000 0.120 3 122254354 frameshift variant G/- delins
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 0
dbSNP: rs193922425
rs193922425 		1.000 0.120 3 122282180 missense variant C/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 0
dbSNP: rs193922426
rs193922426 		1.000 0.120 3 122282189 missense variant G/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 0
dbSNP: rs193922427
rs193922427 		1.000 0.120 3 122282189 missense variant GC/CT mnv
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 0
dbSNP: rs193922429
rs193922429 		1.000 0.120 3 122283837 frameshift variant C/- delins
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 0
dbSNP: rs193922431
rs193922431 		1.000 0.120 3 122283968 missense variant C/A 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 0
dbSNP: rs193922432
rs193922432 		1.000 0.120 3 122257101 missense variant G/A 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 0.700 0
dbSNP: rs193922433
rs193922433 		1.000 0.120 3 122284197 missense variant C/A;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 0
dbSNP: rs193922435
rs193922435 		1.000 0.120 3 122284389 missense variant T/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 0
dbSNP: rs193922436
rs193922436 		1.000 0.120 3 122284443 missense variant G/A 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 0
dbSNP: rs193922437
rs193922437 		1.000 0.120 3 122284598 stop gained A/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 0
dbSNP: rs193922439
rs193922439 		1.000 0.120 3 122257164 missense variant A/C snv 8.0E-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 0.700 0
dbSNP: rs193922442
rs193922442 		0.827 0.120 3 122261589 frameshift variant G/- del
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 0
dbSNP: rs193922444
rs193922444 		1.000 0.120 3 122262009 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 0
dbSNP: rs797044441
rs797044441 		0.925 0.120 3 122257080 splice acceptor variant G/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 0