Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906587
rs387906587
FLNC
1.000 7 128835550 missense variant G/A snv
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.800 1.000 0 2011 2011