CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: Hyperparathyroidism, Primary ×
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: rs1042636
rs1042636 		0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.080 0.875 8 2001 2016
dbSNP: rs1801725
rs1801725 		0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.060 0.667 6 2001 2018
dbSNP: rs1801726
rs1801726 		0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.040 0.750 4 2001 2016
dbSNP: rs756322971
rs756322971 		0.763 0.240 3 122284955 missense variant C/A;G snv
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.040 0.750 4 2001 2016
dbSNP: rs1501899
rs1501899 		0.790 0.240 3 122188481 intron variant A/G snv 0.62
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.010 1.000 1 2015 2015