FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Paroxysmal nocturnal hemoglobinuria ×
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: rs137853315
rs137853315 		0.882 0.200 X 154368081 missense variant G/A snv
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs782549964
rs782549964 		1.000 0.040 X 154353704 missense variant C/T snv 4.5E-05 5.6E-05
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013