CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE ×
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: 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: 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: 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
dbSNP: rs1060502861
rs1060502861 		1.000 0.080 3 122282156 missense variant G/A snv
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.710 1.000 1 2007 2007
dbSNP: rs121909259
rs121909259 		0.882 0.160 3 122261924 missense variant G/A snv
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.710 1.000 1 2012 2012
dbSNP: rs104893690
rs104893690 		0.925 0.120 3 122283699 missense variant G/A;T snv
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 1.000 7 1995 2016
dbSNP: rs201858689
rs201858689 		0.882 0.120 3 122284257 missense variant G/T snv 2.8E-05
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs104893705
rs104893705 		0.882 0.120 3 122283896 stop gained C/A;G;T snv 4.0E-06
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs104893707
rs104893707 		1.000 0.080 3 122261588 stop gained C/A;T snv 1.6E-05
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs104893709
rs104893709 		1.000 0.080 3 122257175 stop gained G/T snv
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs869320729
rs869320729 		1.000 0.080 3 122284195 frameshift variant CC/T delins
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs193922442
rs193922442 		0.827 0.120 3 122261589 frameshift variant G/- del
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.020 1.000 2 2016 2019
dbSNP: rs121909262
rs121909262 		0.851 0.120 3 122254304 missense variant C/G;T snv
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1801725
rs1801725 		0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.010 1.000 1 2007 2007