FGG, fibrinogen gamma chain, 2266

N. diseases: 70; N. variants: 18
Disease: Dysfibrinogenemia, Congenital ×
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: rs121913088
rs121913088 		0.925 0.080 4 154606932 missense variant C/T snv 8.0E-06
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1986 2005
dbSNP: rs121913089
rs121913089 		1.000 0.080 4 154606881 missense variant C/A snv
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1986 2005
dbSNP: rs121913094
rs121913094 		1.000 0.080 4 154606767 missense variant T/A snv
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1986 2005
dbSNP: rs587777720
rs587777720 		0.925 0.080 4 154604986 missense variant A/G snv
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1986 2005
dbSNP: rs121913091
rs121913091 		1.000 0.080 4 154606827 missense variant A/G snv
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009