Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs797044758
rs797044758
LMNA
1.000 0.080 1 156135262 frameshift variant -/A ins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs58013325
rs58013325
LMNA
1.000 0.080 1 156137144 frameshift variant -/C delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 5 2011 2017
dbSNP: rs1471907518
rs1471907518
LMNA
1 156137144 frameshift variant -/C delins
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		0.010 1.000 1 2013 2013
dbSNP: rs58013325
rs58013325
LMNA
1.000 0.080 1 156137144 frameshift variant -/C delins
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		0.010 1.000 1 2013 2013
dbSNP: rs58013325
rs58013325
LMNA
1.000 0.080 1 156137144 frameshift variant -/C delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2005 2005
dbSNP: rs1553261982
rs1553261982
LMNA
1.000 0.080 1 156115165 frameshift variant -/CCGA delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs58571998
rs58571998
LMNA
0.925 0.160 1 156137197 frameshift variant -/CTGC delins
CUI: C0033300
Disease: Progeria
Progeria 		0.010 1.000 1 2006 2006
dbSNP: rs58571998
rs58571998
LMNA
0.925 0.160 1 156137197 frameshift variant -/CTGC delins
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.010 1.000 1 2003 2003
dbSNP: rs267607646
rs267607646
LMNA
1.000 0.080 1 156115265 frameshift variant -/G delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 2 2009 2012
dbSNP: rs863225024
rs863225024
LMNA
1.000 0.080 1 156138749 frameshift variant -/G delins
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.700 1.000 2 2007 2011
dbSNP: rs267607646
rs267607646
LMNA
1.000 0.080 1 156115265 frameshift variant -/G delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2009 2009
dbSNP: rs1553265328
rs1553265328
LMNA
1.000 0.080 1 156134893 frameshift variant -/T delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs1553261855
rs1553261855
LMNA
1.000 0.080 1 156114968 frameshift variant -/TC delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 1 2015 2015
dbSNP: rs397517888
rs397517888
LMNA
1.000 0.080 1 156136074 frameshift variant -/TGGA delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2008 2008
dbSNP: rs397517888
rs397517888
LMNA
1.000 0.080 1 156136074 frameshift variant -/TGGA delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs1553265760
rs1553265760
LMNA
1.000 0.080 1 156136106 frameshift variant A/- del
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 2 2011 2012
dbSNP: rs876657650
rs876657650
LMNA
1 156130736 frameshift variant A/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.050 0.800 5 2009 2019
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.040 0.750 4 2013 2019
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.020 1.000 2 2005 2013
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 1.000 1 2013 2013
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart 		0.010 1.000 1 2017 2017
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0344911
Disease: Left ventricular dilatation
Left ventricular dilatation 		0.010 < 0.001 1 2012 2012
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 1.000 1 2019 2019
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.710 1.000 1 2005 2005