rs60890628, LMNA

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Mandibuloacral dysostosis
CUI: C0432291
Disease: Mandibuloacral dysostosis
16 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.810 1.000 1 2006 2006
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.800 0
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
23 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.800 0
Acro-Osteolysis
CUI: C0917990
Disease: Acro-Osteolysis
1 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.010 1.000 1 2006 2006
Arthropathy
CUI: C0022408
Disease: Arthropathy
10 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.010 1.000 1 2006 2006
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.010 1.000 1 2017 2017
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.010 1.000 1 2017 2017
Left ventricular outflow tract obstruction
CUI: C0344917
Disease: Left ventricular outflow tract obstruction
2 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.010 1.000 1 2017 2017
Ventricular hypertrophy
CUI: C0340279
Disease: Ventricular hypertrophy
9 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.010 1.000 1 2017 2017