FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
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: rs879255639
rs879255639
0.882 0.040 7 128848926 missense variant C/T snv
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5
0.700 0
dbSNP: rs879255640
rs879255640
0.882 0.040 7 128853831 missense variant A/T snv
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5
0.700 0