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: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 1.000 11 2000 2014
dbSNP: rs121912495
rs121912495
LMNA
1.000 0.120 1 156136103 missense variant T/C snv
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.800 1.000 1 2008 2008
dbSNP: rs121912496
rs121912496
LMNA
0.882 0.120 1 156134910 missense variant C/G;T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.800 1.000 2 2008 2017
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: 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: 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: 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: rs199474724
rs199474724
LMNA
0.851 0.120 1 156134839 missense variant G/A snv
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		0.800 1.000 2 2012 2017
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: rs267607545
rs267607545
LMNA
0.882 0.200 1 156136121 missense variant G/A;C;T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
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: rs267607570
rs267607570
LMNA
0.925 0.120 1 156130757 missense variant G/A;C snv 4.8E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.800 1.000 20 1999 2017
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: rs267607571
rs267607571
LMNA
0.882 0.160 1 156134458 missense variant G/A;T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
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
dbSNP: rs267607574
rs267607574
LMNA
1.000 0.040 1 156135916 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 1.000 17 1999 2012
dbSNP: rs267607576
rs267607576
LMNA
0.925 0.160 1 156136219 missense variant G/A;C snv 1.2E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 1.000 17 1999 2012
dbSNP: rs267607578
rs267607578
LMNA
0.925 0.120 1 156136952 missense variant G/A;C snv 1.4E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.810 1.000 17 1999 2014
dbSNP: rs267607596
rs267607596
LMNA
1.000 0.120 1 156135281 missense variant T/C snv
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.700 1.000 1 2008 2008
dbSNP: rs267607597
rs267607597
LMNA
1.000 0.120 1 156136420 missense variant G/A;C snv
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.700 1.000 1 2008 2008
dbSNP: rs267607598
rs267607598
LMNA
1.000 0.120 1 156136414 missense variant G/A;C snv 1.4E-05
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.700 1.000 1 2008 2008
dbSNP: rs267607599
rs267607599
LMNA
0.925 0.120 1 156136422 missense variant A/G;T snv
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.700 1.000 1 2008 2008
dbSNP: rs267607614
rs267607614
LMNA
1.000 0.120 1 156115016 missense variant A/G snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017