PLG, plasminogen, 5340

N. diseases: 586; N. variants: 34
Disease: Angioedemas, Hereditary ×
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: rs889957249
rs889957249 		1.000 0.160 6 160718730 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.720 1.000 2 2019 2019
dbSNP: rs753879928
rs753879928 		1.000 0.160 6 160718432 missense variant G/C snv 1.6E-05
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.010 1.000 1 2020 2020