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: 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: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.810 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: 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: rs104893706
rs104893706 		0.851 0.240 3 122284482 missense variant C/A snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 1.000 20 1994 2015
dbSNP: rs104893708
rs104893708 		0.851 0.160 3 122257269 missense variant T/C snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 1.000 20 1994 2015
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: rs121909267
rs121909267 		1.000 3 122257288 missense variant C/G snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 1.000 20 1994 2015
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: rs104893700
rs104893700 		1.000 0.080 3 122283963 missense variant G/A snv
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.800 1.000 7 1995 2016
dbSNP: rs1801725
rs1801725 		0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11
CUI: C0201925
Disease: Calcium measurement
Calcium measurement 		0.800 1.000 4 2010 2018
dbSNP: rs17251221
rs17251221 		0.724 0.360 3 122274400 intron variant A/G snv 0.11
CUI: C0201925
Disease: Calcium measurement
Calcium measurement 		0.800 1.000 2 2010 2017
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: rs104893689
rs104893689 		0.790 0.200 3 122261589 missense variant G/A;C snv
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.720 1.000 2 2016 2019