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: rs267607554
rs267607554
LMNA
1.000 0.080 1 156135925 stop gained C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 2 2008 2016
dbSNP: rs267607618
rs267607618
LMNA
1.000 0.080 1 156136350 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2009 2013
dbSNP: rs61046466
rs61046466
LMNA
1.000 0.120 1 156114934 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 1999 2000
dbSNP: rs1060502211
rs1060502211
LMNA
1.000 0.080 1 156135952 stop gained G/A;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 1 2013 2013
dbSNP: rs267607554
rs267607554
LMNA
1.000 0.080 1 156135925 stop gained C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 1.000 1 2016 2016
dbSNP: rs267607573
rs267607573
LMNA
1.000 0.080 1 156134865 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2008 2008
dbSNP: rs267607618
rs267607618
LMNA
1.000 0.080 1 156136350 stop gained C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 1 2009 2009
dbSNP: rs267607622
rs267607622
LMNA
1 156130735 stop gained G/A;C;T snv 4.2E-06
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart 		0.010 1.000 1 2019 2019
dbSNP: rs267607623
rs267607623
LMNA
1.000 0.080 1 156136021 stop gained C/A;T snv 4.0E-06
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: rs397517909
rs397517909
LMNA
1 156134949 stop gained G/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2000 2000
dbSNP: rs58048078
rs58048078
LMNA
0.925 0.120 1 156134942 stop gained T/A;C snv 4.0E-06
CUI: C1834653
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) 		0.010 1.000 1 2003 2003
dbSNP: rs60458016
rs60458016
LMNA
0.827 0.120 1 156136036 stop gained G/A;T snv
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.010 1.000 1 2011 2011
dbSNP: rs60682848
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.010 1.000 1 2012 2012
dbSNP: rs60682848
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
CUI: C0018794
Disease: Heart Block
Heart Block 		0.010 1.000 1 2020 2020
dbSNP: rs60682848
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart 		0.010 1.000 1 2020 2020
dbSNP: rs60682848
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 1.000 1 2020 2020
dbSNP: rs60682848
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		0.010 1.000 1 2020 2020
dbSNP: rs60682848
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 1.000 1 2001 2001
dbSNP: rs1553264593
rs1553264593
LMNA
1.000 0.080 1 156130651 stop gained C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs1553265165
rs1553265165
LMNA
1.000 0.080 1 156134481 stop gained C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs1553265455
rs1553265455
LMNA
1.000 0.080 1 156135253 stop gained C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs1558115754
rs1558115754
LMNA
1.000 0.080 1 156114922 stop gained G/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs267607561
rs267607561
LMNA
1.000 0.080 1 156136240 stop gained C/A;T snv 1.2E-05 1.4E-05
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs267607617
rs267607617
LMNA
1.000 0.080 1 156136027 stop gained C/G;T snv 4.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs56699480
rs56699480
LMNA
1.000 0.120 1 156137017 stop gained C/T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0