CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: Hypoparathyroidism ×
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: rs121909264
rs121909264 		0.851 0.160 3 122257323 missense variant G/A snv
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		Endocrine System Diseases 0.700 1.000 1 1995 1995
dbSNP: rs115230894
rs115230894 		1.000 0.040 3 122282135 missense variant G/A;T snv 8.7E-04; 4.0E-06
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1385228926
rs1385228926 		1.000 0.040 3 122284388 missense variant C/T snv
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		Endocrine System Diseases 0.010 1.000 1 2004 2004