FGA, fibrinogen alpha chain, 2243

N. diseases: 118; N. variants: 20
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: rs121909606
rs121909606 		0.925 0.080 4 154589514 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 1993 2006
dbSNP: rs121909613
rs121909613 		0.882 0.160 4 154585712 splice acceptor variant G/A;C;T snv 4.8E-05; 4.0E-06
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 1993 2006