rs146387238, FGA

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hypofibrinogenemia
CUI: C0553681
Disease: Hypofibrinogenemia
14 0.882 0.120 4 154587511 splice donor variant C/A;G snv 5.6E-05 0.700 1.000 1 2019 2019
Complement Factor I (C3 inactivator) deficiency
CUI: C3463916
Disease: Complement Factor I (C3 inactivator) deficiency
12 0.882 0.120 4 154587511 splice donor variant C/A;G snv 5.6E-05 0.700 0
Hypodysfibrinogenemia, Congenital
CUI: C1859970
Disease: Hypodysfibrinogenemia, Congenital
1 0.882 0.120 4 154587511 splice donor variant C/A;G snv 5.6E-05 0.700 0