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: 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 24 1999 2014
dbSNP: rs56984562
rs56984562
LMNA
0.827 0.200 1 156137666 missense variant C/A;G;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.810 1.000 24 1999 2017
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: rs28933090
rs28933090
LMNA
0.925 0.160 1 156115172 missense variant T/A;G snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.800 1.000 20 1999 2017
dbSNP: rs28933091
rs28933091
LMNA
0.882 0.160 1 156134474 missense variant C/A;G snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.800 1.000 20 1999 2017
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: 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: 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: 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
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: rs28933092
rs28933092
LMNA
1.000 0.040 1 156134497 missense variant A/G;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.800 1.000 17 1999 2012
dbSNP: rs28933093
rs28933093
LMNA
0.882 0.160 1 156130741 missense variant G/A snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.810 1.000 17 1999 2012
dbSNP: rs56816490
rs56816490
LMNA
0.925 0.120 1 156135913 stop gained G/A;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 1.000 17 1999 2012
dbSNP: rs58789393
rs58789393
LMNA
1.000 0.040 1 156136010 missense variant G/A;T snv 4.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 1.000 17 1999 2012
dbSNP: rs59040894
rs59040894
LMNA
0.925 0.120 1 156115184 missense variant G/A;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 1.000 17 1999 2012
dbSNP: rs59065411
rs59065411
LMNA
1.000 0.040 1 156115207 missense variant A/G snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 1.000 17 1999 2012
dbSNP: rs61195471
rs61195471
LMNA
0.827 0.160 1 156134496 missense variant G/A snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 1.000 17 1999 2012
dbSNP: rs397517889
rs397517889
LMNA
0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 14 2000 2014
dbSNP: rs56984562
rs56984562
LMNA
0.827 0.200 1 156137666 missense variant C/A;G;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 14 2003 2017