rs111033559, PLN;CEP85L

N. diseases: 2
Source: BEFREE ×
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, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
65 0.925 0.040 6 118558946 missense variant C/T snv 0.710 1.000 1 2003 2018
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
200 0.925 0.040 6 118558946 missense variant C/T snv 0.010 1.000 1 2016 2016