CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
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: rs1276839362
rs1276839362 		1.000 0.040 3 122257092 missense variant G/A;T snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.700 1.000 20 1993 2016
dbSNP: rs140022350
rs140022350 		1.000 0.040 3 122284359 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.700 1.000 20 1993 2016
dbSNP: rs1482119762
rs1482119762 		0.851 0.200 3 122261693 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.700 1.000 20 1993 2016
dbSNP: rs1553765909
rs1553765909 		1.000 0.040 3 122254314 missense variant T/C snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.700 1.000 20 1993 2016
dbSNP: rs200673016
rs200673016 		0.925 0.040 3 122254221 missense variant T/C snv 4.2E-05
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.700 1.000 20 1993 2016
dbSNP: rs397514728
rs397514728 		0.851 0.160 3 122261697 missense variant C/A;T snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.800 1.000 20 1993 2016
dbSNP: rs769256610
rs769256610 		1.000 0.040 3 122257322 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.700 1.000 20 1993 2016
dbSNP: rs777646067
rs777646067 		1.000 0.040 3 122282167 missense variant A/G snv 4.0E-06
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.700 1.000 20 1993 2016
dbSNP: rs886041154
rs886041154 		0.882 0.160 3 122254353 missense variant C/T snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.700 1.000 20 1993 2016
dbSNP: rs1060502847
rs1060502847 		0.925 0.120 3 122254353 missense variant CG/TT mnv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.700 1.000 9 1995 2014
dbSNP: rs767363250
rs767363250 		0.827 0.280 3 122283992 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.710 1.000 7 1995 2012
dbSNP: rs1553769059
rs1553769059 		0.925 0.120 3 122284197 frameshift variant -/G delins
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.700 1.000 1 1997 1997
dbSNP: rs104893705
rs104893705 		0.882 0.120 3 122283896 stop gained C/A;G;T snv 4.0E-06
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.730 1.000 3 2001 2004
dbSNP: rs62269092
rs62269092 		1.000 0.040 3 122261783 missense variant G/A snv 1.5E-03 1.6E-03
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1559956683
rs1559956683 		0.925 0.120 3 122257288 inframe deletion AGAGCACATTCCCTC/- delins
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs193922442
rs193922442 		0.827 0.120 3 122261589 frameshift variant G/- del
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs28936684
rs28936684 		0.827 0.160 3 122261715 missense variant G/A;T snv 4.0E-06
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.810 1.000 1 2016 2016
dbSNP: rs886041637
rs886041637 		0.925 0.120 3 122282134 stop gained C/T snv 7.0E-06
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1060502855
rs1060502855 		0.882 0.160 3 122261567 missense variant A/G snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.710 1.000 1 2018 2018