rs142000963, LMNA

N. diseases: 8
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.
Progeria
CUI: C0033300
Disease: Progeria
41 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.710 1.000 1 2008 2008
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.700 1.000 2 2008 2014
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
74 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.700 0
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.010 1.000 1 2012 2012
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.010 1.000 1 2012 2012
Left Ventricular Hypertrophy
CUI: C0149721
Disease: Left Ventricular Hypertrophy
67 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.010 1.000 1 2008 2008
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.010 1.000 1 2008 2008
Paresis
CUI: C0030552
Disease: Paresis
49 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.010 1.000 1 2008 2008