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: rs121912496
rs121912496
LMNA
0.882 0.120 1 156134910 missense variant C/G;T snv
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.800 1.000 1 2008 2008
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: 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: 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: rs57629361
rs57629361
LMNA
0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.800 1.000 0 1991 2014
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: 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
dbSNP: rs60890628
rs60890628
LMNA
0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 0
dbSNP: rs60890628
rs60890628
LMNA
0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.800 0
dbSNP: rs61214927
rs61214927
LMNA
1.000 0.080 1 156134853 missense variant G/A snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 0
dbSNP: rs58912633
rs58912633
LMNA
0.851 0.240 1 156130688 missense variant C/G;T snv
CUI: C0033300
Disease: Progeria
Progeria 		0.730 1.000 10 2003 2015
dbSNP: rs57045855
rs57045855
LMNA
0.882 0.040 1 156134464 missense variant A/G;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.720 1.000 17 1999 2012
dbSNP: rs61661343
rs61661343
LMNA
0.851 0.040 1 156130687 missense variant T/C snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.720 1.000 17 1999 2019
dbSNP: rs59026483
rs59026483
LMNA
0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.710 0.944 17 1999 2012
dbSNP: rs142000963
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03
CUI: C0033300
Disease: Progeria
Progeria 		0.710 1.000 0 2008 2008
dbSNP: rs56673169
rs56673169
LMNA
0.925 0.160 1 156137671 missense variant G/C snv
CUI: C0033300
Disease: Progeria
Progeria 		0.710 1.000 0 2011 2011
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 0 2005 2005
dbSNP: rs59653062
rs59653062
LMNA
0.925 0.120 1 156136076 missense variant T/A snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.710 1.000 0 2006 2006
dbSNP: rs150840924
rs150840924
LMNA
0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 1.000 17 1999 2012
dbSNP: rs201583907
rs201583907
LMNA
0.925 0.040 1 156137191 missense variant G/A;C snv 8.6E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 1.000 17 1999 2012
dbSNP: rs267607560
rs267607560
LMNA
0.925 0.040 1 156115192 missense variant C/T snv 7.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 1.000 17 1999 2012
dbSNP: rs267607568
rs267607568
LMNA
1.000 0.040 1 156115220 missense variant G/A;C;T snv 4.1E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 1.000 17 1999 2012
dbSNP: rs267607571
rs267607571
LMNA
0.882 0.160 1 156134458 missense variant G/A;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 1.000 17 1999 2012
dbSNP: rs267607572
rs267607572
LMNA
1.000 0.040 1 156134518 missense variant T/G snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 1.000 17 1999 2012