rs60682848, LMNA

N. diseases: 11
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, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.710 1.000 6 2001 2020
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.700 1.000 5 1990 2014
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
74 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.700 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
CUI: C1834653
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
6 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.700 0
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.030 1.000 3 2007 2020
Atrioventricular Block
CUI: C0004245
Disease: Atrioventricular Block
17 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.010 1.000 1 2020 2020
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.010 1.000 1 2001 2001
Conduction disorder of the heart
CUI: C0264886
Disease: Conduction disorder of the heart
11 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.010 1.000 1 2020 2020
Familial dilated cardiomyopathy
CUI: C0340427
Disease: Familial dilated cardiomyopathy
47 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.010 1.000 1 2012 2012
Heart Block
CUI: C0018794
Disease: Heart Block
7 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.010 1.000 1 2020 2020
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.010 1.000 1 2020 2020