FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
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: rs137853312
rs137853312
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia
Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs137853316
rs137853316
0.851 0.160 X 154354860 missense variant C/A snv
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia
Cardiovascular Diseases 0.010 1.000 1 2006 2006