FGG, fibrinogen gamma chain, 2266

N. diseases: 70; N. variants: 18
Disease: Congenital hypofibrinogenemia ×
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: rs75848804
rs75848804 		0.882 0.080 4 154604995 missense variant G/A;C;T snv
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs148685782
rs148685782 		1.000 0.080 4 154611883 missense variant G/C snv 1.9E-03 2.2E-03
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1553965519
rs1553965519 		1.000 0.080 4 154606812 stop gained C/T snv
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0