KNG1, kininogen 1, 3827

N. diseases: 279; N. variants: 24
Disease: Kininogen Deficiency, Total ×
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: rs121918131
rs121918131 		1.000 0.040 3 186727258 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C1856719
Disease: Kininogen Deficiency, Total
Kininogen Deficiency, Total 		Hemic and Lymphatic Diseases 0.700 0