rs111033560, PLN;CEP85L

N. diseases: 9
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.
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.710 0.833 6 2003 2013
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.710 1.000 1 2003 2003
CARDIOMYOPATHY, DILATED, 1P
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
4 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.700 1.000 6 2003 2017
Cardiac Arrest
CUI: C0018790
Disease: Cardiac Arrest
50 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.700 0
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.700 0
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18
1 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.700 0
Sudden Cardiac Death
CUI: C0085298
Disease: Sudden Cardiac Death
40 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.700 0
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
165 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.010 1.000 1 2003 2003
Heart failure
CUI: C0018801
Disease: Heart failure
201 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.010 1.000 1 2003 2003