Source: UNIPROT

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: rs13768
rs13768
LMNA
1.000 0.120 1 156138660 missense variant G/A;T snv 2.4E-05
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs142000963
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs28928900
rs28928900
LMNA
0.925 0.120 1 156115096 missense variant C/G;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.800 0
dbSNP: rs28928900
rs28928900
LMNA
0.925 0.120 1 156115096 missense variant C/G;T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 0
dbSNP: rs28928901
rs28928901
LMNA
0.882 0.120 1 156134829 missense variant C/T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs28928902
rs28928902
LMNA
0.851 0.160 1 156136951 missense variant C/G;T snv 1.2E-05
CUI: C0033300
Disease: Progeria
Progeria 		0.700 0
dbSNP: rs28928903
rs28928903
LMNA
0.925 0.240 1 156115087 missense variant G/A;C snv
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.800 0
dbSNP: rs56694480
rs56694480
LMNA
1.000 0.120 1 156115021 missense variant C/G snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs56793579
rs56793579
LMNA
0.851 0.240 1 156115102 missense variant C/G;T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 0
dbSNP: rs57747780
rs57747780
LMNA
0.925 0.200 1 156136981 missense variant T/C snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs58105277
rs58105277
LMNA
1.000 0.120 1 156135971 missense variant G/A snv 2.8E-05
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs58327533
rs58327533
LMNA
1.000 0.120 1 156114991 missense variant C/G;T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs58362413
rs58362413
LMNA
0.925 0.160 1 156137183 stop gained G/A;C snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs58436778
rs58436778
LMNA
0.925 0.120 1 156115052 missense variant A/G snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs58541611
rs58541611
LMNA
1.000 0.120 1 156136393 missense variant A/G;T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs58672172
rs58672172
LMNA
0.882 0.160 1 156136251 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 0
dbSNP: rs58672172
rs58672172
LMNA
0.882 0.160 1 156136251 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.700 0
dbSNP: rs59914820
rs59914820
LMNA
0.925 0.160 1 156115000 missense variant C/G;T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.700 0
dbSNP: rs59931416
rs59931416
LMNA
1.000 0.120 1 156115066 missense variant C/A;T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs59981161
rs59981161
LMNA
1.000 0.080 1 156136998 missense variant G/C;T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 0
dbSNP: rs60446065
rs60446065
LMNA
1.000 0.120 1 156115045 missense variant G/A snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs60652225
rs60652225
LMNA
0.851 0.200 1 156130679 missense variant T/C;G snv
CUI: C0033300
Disease: Progeria
Progeria 		0.700 0
dbSNP: rs60652225
rs60652225
LMNA
0.851 0.200 1 156130679 missense variant T/C;G snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs60864230
rs60864230
LMNA
0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs60864230
rs60864230
LMNA
0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 0