rs137853315, FLNA

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.
Periventricular Heterotopia, X-Linked
38 0.882 0.200 X 154368081 missense variant G/A snv 0.800 1.000 6 2001 2006
Ehlers-Danlos Syndrome
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
14 0.882 0.200 X 154368081 missense variant G/A snv 0.010 1.000 1 2006 2006
Paroxysmal nocturnal hemoglobinuria
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
12 0.882 0.200 X 154368081 missense variant G/A snv 0.010 1.000 1 2006 2006