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: rs104893689
rs104893689 		0.790 0.200 3 122261589 missense variant G/A;C snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.810 1.000 36 1976 2016
dbSNP: rs121909262
rs121909262 		0.851 0.120 3 122254304 missense variant C/G;T snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.810 1.000 21 1993 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: rs121909259
rs121909259 		0.882 0.160 3 122261924 missense variant G/A snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.800 1.000 25 1993 2016
dbSNP: rs121909263
rs121909263 		0.925 0.120 3 122257308 missense variant C/T snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.800 1.000 22 1992 2016
dbSNP: rs201851934
rs201851934 		0.925 0.120 3 122261549 missense variant A/C;G snv 4.0E-06
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.800 1.000 22 1993 2016
dbSNP: rs104893690
rs104893690 		0.925 0.120 3 122283699 missense variant G/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: rs104893717
rs104893717 		0.925 0.040 3 122254227 missense variant T/C 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: rs104893719
rs104893719 		1.000 0.040 3 122282161 missense variant G/A 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: rs121909258
rs121909258 		0.882 0.160 3 122284337 missense variant C/T snv 7.0E-06
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: rs121909264
rs121909264 		0.851 0.160 3 122257323 missense variant G/A 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: rs121909265
rs121909265 		1.000 0.040 3 122254374 missense variant G/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: rs121909266
rs121909266 		1.000 0.040 3 122257091 missense variant C/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: rs121909268
rs121909268 		1.000 0.040 3 122261574 missense variant T/G 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: 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: rs200620134
rs200620134 		1.000 0.040 3 122284869 missense variant C/T snv 4.4E-05 1.4E-05
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.800 0
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: 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: 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
dbSNP: rs104893716
rs104893716 		1.000 0.040 3 122275828 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: 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