rs386134243, LMNA

N. diseases: 16
Source: CLINVAR ×
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
443 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 1.000 11 2012 2017
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
138 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 1.000 4 2012 2017
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
108 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
25 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
26 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
Charcot-Marie-Tooth disease, Type 2B1
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
6 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
Emery-Dreifuss Muscular Dystrophy 3
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
4 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
17 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
Heart-hand syndrome, Slovenian type
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
3 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
Left ventricular noncompaction
CUI: C1960469
Disease: Left ventricular noncompaction
19 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
Lethal tight skin contracture syndrome (disorder)
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
10 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
Malouf syndrome
CUI: C0796031
Disease: Malouf syndrome
4 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
Mandibuloacral dysostosis
CUI: C0432291
Disease: Mandibuloacral dysostosis
8 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
13 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
CUI: C1834653
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
4 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
Progeria
CUI: C0033300
Disease: Progeria
20 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0