KLKB1, kallikrein B1, 3818

N. diseases: 88; N. variants: 63
Disease: Prekallikrein deficiency ×
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: rs121964952
rs121964952 		1.000 0.040 4 186236819 stop gained G/A;T snv 4.0E-06
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		Hemic and Lymphatic Diseases 0.800 1.000 2 2003 2007
dbSNP: rs3733402
rs3733402 		1.000 0.040 4 186236880 missense variant G/A;C snv 0.54
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		Hemic and Lymphatic Diseases 0.800 1.000 2 2003 2007
dbSNP: rs121964951
rs121964951 		1.000 0.040 4 186257283 missense variant G/A snv 6.8E-04 5.2E-04
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 2 2003 2007
dbSNP: rs186254196
rs186254196 		1.000 0.040 4 186252131 missense variant G/A;T snv 8.0E-06
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs121964949
rs121964949 		1.000 0.040 4 186236789 stop gained C/T snv 6.4E-05 4.2E-05
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121964950
rs121964950 		1.000 0.040 4 186252077 stop gained G/A snv 4.0E-06
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		Hemic and Lymphatic Diseases 0.700 0