rs57077886, 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.
Generalized Lipodystrophy
CUI: C4317112
Disease: Generalized Lipodystrophy
5 0.776 0.240 1 156114947 missense variant C/T snv 0.010 1.000 1 2018 2018
Lipoatrophy
CUI: C1280433
Disease: Lipoatrophy
6 0.776 0.240 1 156114947 missense variant C/T snv 0.010 1.000 1 2008 2008
Cockayne Syndrome
CUI: C0009207
Disease: Cockayne Syndrome
11 0.776 0.240 1 156114947 missense variant C/T snv 0.010 1.000 1 2018 2018
Familial generalized lipodystrophy
CUI: C0221032
Disease: Familial generalized lipodystrophy
15 0.776 0.240 1 156114947 missense variant C/T snv 0.010 1.000 1 2018 2018
Polyendocrinopathies, Autoimmune
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
21 0.776 0.240 1 156114947 missense variant C/T snv 0.010 1.000 1 2018 2018
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
23 0.776 0.240 1 156114947 missense variant C/T snv 0.700 0
Lipodystrophy
CUI: C0023787
Disease: Lipodystrophy
28 0.776 0.240 1 156114947 missense variant C/T snv 0.710 1.000 1 2008 2008
Progeria
CUI: C0033300
Disease: Progeria
41 0.776 0.240 1 156114947 missense variant C/T snv 0.010 1.000 1 2018 2018
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.776 0.240 1 156114947 missense variant C/T snv 0.700 0