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: 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: 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: 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: 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: rs58912633
rs58912633
LMNA
0.851 0.240 1 156130688 missense variant C/G;T snv
CUI: C0033300
Disease: Progeria
Progeria 		0.730 1.000 12 2003 2015
dbSNP: rs59885338
rs59885338
LMNA
0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.730 1.000 3 2003 2008
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 18 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 18 1999 2019
dbSNP: rs59270054
rs59270054
LMNA
0.925 0.120 1 156115162 missense variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.720 1.000 6 2005 2010
dbSNP: rs59267781
rs59267781
LMNA
0.851 0.120 1 156138657 missense variant C/G snv
CUI: C0033300
Disease: Progeria
Progeria 		0.720 1.000 3 2004 2016
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 18 1999 2012
dbSNP: rs59301204
rs59301204
LMNA
0.925 0.080 1 156135956 missense variant G/A;C snv 1.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.710 1.000 9 2007 2018
dbSNP: rs60682848
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.710 1.000 6 2001 2020
dbSNP: rs28933091
rs28933091
LMNA
0.882 0.160 1 156134474 missense variant C/A;G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.710 1.000 5 1999 2007
dbSNP: rs56793579
rs56793579
LMNA
0.851 0.240 1 156115102 missense variant C/G;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.710 1.000 3 2002 2010
dbSNP: rs267607547
rs267607547
LMNA
1.000 0.080 1 156137664 missense variant T/C snv
CUI: C0033300
Disease: Progeria
Progeria 		0.710 1.000 2 2006 2014
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