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: 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: 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: 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: rs104893691
rs104893691 		0.925 0.120 3 122257241 missense variant G/A snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 1.000 20 1994 2015
dbSNP: rs104893693
rs104893693 		0.925 0.120 3 122284371 missense variant T/A;C snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 1.000 20 1994 2015
dbSNP: rs104893694
rs104893694 		0.925 0.120 3 122257347 missense variant C/T snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 1.000 20 1994 2015
dbSNP: rs104893695
rs104893695 		0.925 0.120 3 122257249 missense variant C/A snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 1.000 20 1994 2015
dbSNP: rs104893696
rs104893696 		0.925 0.120 3 122257277 missense variant T/C snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 1.000 20 1994 2015
dbSNP: rs104893697
rs104893697 		0.925 0.120 3 122261606 missense variant G/A snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 1.000 20 1994 2015
dbSNP: rs104893698
rs104893698 		0.925 0.120 3 122283789 missense variant T/C snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 1.000 20 1994 2015
dbSNP: rs104893699
rs104893699 		0.925 0.120 3 122284272 missense variant T/G snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 1.000 20 1994 2015
dbSNP: rs104893701
rs104893701 		0.925 0.120 3 122284317 missense variant T/G snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 1.000 20 1994 2015
dbSNP: rs104893702
rs104893702 		0.925 0.120 3 122254330 missense variant A/C snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 1.000 20 1994 2015
dbSNP: rs104893703
rs104893703 		0.925 0.120 3 122283800 missense variant C/G snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 1.000 20 1994 2015
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: rs104893710
rs104893710 		0.851 0.200 3 122284413 missense variant C/T snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 1.000 20 1994 2015
dbSNP: rs104893712
rs104893712 		0.882 0.160 3 122283764 missense variant G/A snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 1.000 20 1994 2015
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: 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: rs104893718
rs104893718 		0.925 0.120 3 122284134 missense variant T/A snv
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 1.000 20 1994 2015
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