C5, complement C5, 727

N. diseases: 129; N. variants: 20
Disease: Complement component 5 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: rs121909587
rs121909587 		1.000 0.080 9 121050192 stop gained G/A snv 1.4E-04 4.2E-04
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs121909588
rs121909588 		1.000 0.080 9 120962749 stop gained G/A snv 7.6E-05 1.7E-04
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs1554718962
rs1554718962 		1.000 0.080 9 120962955 frameshift variant C/- delins
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs387906554
rs387906554 		1.000 0.080 9 120953758 frameshift variant GG/C delins
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs587776846
rs587776846 		1.000 0.080 9 121023405 missense variant T/C snv
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0