rs143873938, FLNA

N. diseases: 4
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.
Bilateral Periventricular Nodular Heterotopia
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
1 0.882 0.120 X 154365245 missense variant C/A;G;T snv 3.1E-03 0.020 1.000 2 2002 2010
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
31 0.882 0.120 X 154365245 missense variant C/A;G;T snv 3.1E-03 0.010 1.000 1 2010 2010
Malformations of Cortical Development, Group II
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
101 0.882 0.120 X 154365245 missense variant C/A;G;T snv 3.1E-03 0.010 1.000 1 2010 2010
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.882 0.120 X 154365245 missense variant C/A;G;T snv 3.1E-03 0.010 1.000 1 2010 2010