Disease: Familial Isolated Hyperparathyroidism ×
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: rs2072407
rs2072407 		1.000 0.040 7 148811741 non coding transcript exon variant A/C;G;T snv 0.67
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		Endocrine System Diseases 0.010 1.000 1 2016 2016