FGG, fibrinogen gamma chain, 2266

N. diseases: 70; N. variants: 18
Disease: 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: rs121913087
rs121913087 		0.925 0.080 4 154606933 missense variant G/A snv
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		0.700 1.000 1 2019 2019
dbSNP: rs121913088
rs121913088 		0.925 0.080 4 154606932 missense variant C/T snv 8.0E-06
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		0.700 1.000 1 2019 2019
dbSNP: rs587776837
rs587776837 		0.925 0.080 4 154612527 splice region variant C/T snv
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		0.700 1.000 1 2019 2019
dbSNP: rs75848804
rs75848804 		0.882 0.080 4 154604995 missense variant G/A;C;T snv
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		0.010 1.000 1 2015 2015