rs1562998858, FLNC

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.
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
43 0.882 0.120 7 128847739 frameshift variant AAGG/- delins 0.700 0
Filaminopathy, autosomal dominant
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
38 0.882 0.120 7 128847739 frameshift variant AAGG/- delins 0.700 0
MYOPATHY, DISTAL, 4
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
38 0.882 0.120 7 128847739 frameshift variant AAGG/- delins 0.700 0