FGA, fibrinogen alpha chain, 2243

N. diseases: 118; N. variants: 20
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: rs755117226
rs755117226
1.000 0.080 4 154587520 stop gained G/A snv 8.0E-06 2.1E-05
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0