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: rs60872029
rs60872029
LMNA
0.925 0.120 1 156115010 inframe deletion AAG/- delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 7 2002 2014
dbSNP: rs58978449
rs58978449
LMNA
1 156134943 inframe deletion AAG/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2000 2001
dbSNP: rs864309525
rs864309525
LMNA
0.925 0.120 1 156115007 inframe deletion GAG/- delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 3 2012 2017
dbSNP: rs794728597
rs794728597
LMNA
1 156130624 inframe deletion AAG/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
dbSNP: rs1553264624
rs1553264624
LMNA
1.000 0.120 1 156130724 inframe deletion AGCGCACGCTGGAGG/- del
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.700 0
dbSNP: rs1553265369
rs1553265369
LMNA
1.000 0.120 1 156134954 inframe deletion GAG/- delins
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.700 0
dbSNP: rs1553265436
rs1553265436
LMNA
1.000 0.120 1 156135214 inframe deletion GAACAG/- delins
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.700 0
dbSNP: rs1553265761
rs1553265761
LMNA
1.000 0.120 1 156136111 inframe deletion GAG/- delins
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.700 0
dbSNP: rs267607540
rs267607540
LMNA
1.000 0.120 1 156134509 inframe deletion GAA/- delins
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs397517887
rs397517887
LMNA
1 156136074 inframe deletion ATGGAGATCCACGCC/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs60872029
rs60872029
LMNA
0.925 0.120 1 156115010 inframe deletion AAG/- delins
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.700 0
dbSNP: rs864309525
rs864309525
LMNA
0.925 0.120 1 156115007 inframe deletion GAG/- delins
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.700 0
dbSNP: rs864309525
rs864309525
LMNA
0.925 0.120 1 156115007 inframe deletion GAG/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs794728598
rs794728598
LMNA
1.000 0.080 1 156114921 start lost G/A;C;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 5 2007 2011
dbSNP: rs58596362
rs58596362
LMNA
0.827 0.280 1 156138613 splice region variant C/A;T snv 8.1E-06
CUI: C0033300
Disease: Progeria
Progeria 		0.790 0.917 12 2003 2018
dbSNP: rs58596362
rs58596362
LMNA
0.827 0.280 1 156138613 splice region variant C/A;T snv 8.1E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 9 2003 2017
dbSNP: rs267607581
rs267607581
LMNA
0.925 0.080 1 156137651 splice region variant C/G snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 4 1996 2017
dbSNP: rs267607581
rs267607581
LMNA
0.925 0.080 1 156137651 splice region variant C/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 4 1996 2017
dbSNP: rs4641
rs4641
LMNA
0.851 0.120 1 156137743 splice region variant C/T snv 0.26 0.21
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.040 0.750 4 2007 2010
dbSNP: rs4641
rs4641
LMNA
0.851 0.120 1 156137743 splice region variant C/T snv 0.26 0.21
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.020 1.000 2 2007 2010
dbSNP: rs59886214
rs59886214
LMNA
1.000 0.080 1 156138610 splice region variant G/A snv
CUI: C0033300
Disease: Progeria
Progeria 		0.710 1.000 2 2007 2012
dbSNP: rs4641
rs4641
LMNA
0.851 0.120 1 156137743 splice region variant C/T snv 0.26 0.21
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2007 2007
dbSNP: rs4641
rs4641
LMNA
0.851 0.120 1 156137743 splice region variant C/T snv 0.26 0.21
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2007 2007
dbSNP: rs4641
rs4641
LMNA
0.851 0.120 1 156137743 splice region variant C/T snv 0.26 0.21
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 1.000 1 2015 2015
dbSNP: rs4641
rs4641
LMNA
0.851 0.120 1 156137743 splice region variant C/T snv 0.26 0.21
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 1.000 1 2015 2015