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: rs57920071
rs57920071
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
Familial Partial Lipodystrophy, Type 2
0.830 1.000 0 2014 2018
dbSNP: rs57318642
rs57318642
0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05
CUI: C0033300
Disease: Progeria
Progeria
0.820 1.000 10 2003 2013
dbSNP: rs60310264
rs60310264
0.827 0.200 1 156130693 missense variant G/A snv
CUI: C0033300
Disease: Progeria
Progeria
0.820 1.000 0 2003 2017
dbSNP: rs56984562
rs56984562
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 20 1999 2017
dbSNP: rs267607578
rs267607578
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: rs28933093
rs28933093
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: rs57520892
rs57520892
0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
0.810 1.000 3 2002 2006
dbSNP: rs58932704
rs58932704
0.776 0.200 1 156136413 missense variant C/T snv
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.810 1.000 2 2008 2017
dbSNP: rs60580541
rs60580541
1.000 0.120 1 156137210 missense variant C/T snv
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
0.810 1.000 0 2005 2005
dbSNP: rs60890628
rs60890628
0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
0.810 1.000 0 2006 2006
dbSNP: rs267607570
rs267607570
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
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
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: rs28933092
rs28933092
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: rs11575937
rs11575937
0.653 0.480 1 156136985 missense variant G/A;T snv
Familial Partial Lipodystrophy, Type 2
0.800 1.000 11 2000 2014
dbSNP: rs57520892
rs57520892
0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
Familial Partial Lipodystrophy, Type 2
0.800 1.000 11 2000 2014
dbSNP: rs57830985
rs57830985
0.925 0.080 1 156138534 missense variant G/A;T snv 8.2E-06 7.0E-06
Familial Partial Lipodystrophy, Type 2
0.800 1.000 11 2000 2014
dbSNP: rs61282106
rs61282106
0.925 0.080 1 156136934 missense variant G/A snv
Familial Partial Lipodystrophy, Type 2
0.800 1.000 11 2000 2014
dbSNP: rs58922911
rs58922911
0.925 0.320 1 156115094 missense variant T/G snv
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
0.800 1.000 3 2003 2009
dbSNP: rs121912496
rs121912496
0.882 0.120 1 156134910 missense variant C/G;T snv
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 1.000 2 2008 2017
dbSNP: rs199474724
rs199474724
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: rs57207746
rs57207746
0.925 0.120 1 156134860 missense variant G/A snv
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 1.000 2 2000 2017
dbSNP: rs57520892
rs57520892
0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 1.000 2 2012 2017
dbSNP: rs60934003
rs60934003
0.882 0.160 1 156137213 missense variant T/C snv
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 1.000 2 2012 2017
dbSNP: rs121912495
rs121912495
1.000 0.120 1 156136103 missense variant T/C snv
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.800 1.000 1 2008 2008