rs57920071, LMNA

N. diseases: 11
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.
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
23 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.830 1.000 3 2014 2018
Familial partial lipodystrophy
CUI: C0271694
Disease: Familial partial lipodystrophy
16 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.100 1.000 14 2001 2018
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
267 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.020 1.000 2 2013 2018
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
281 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.020 1.000 2 2013 2018
Lipodystrophy
CUI: C0023787
Disease: Lipodystrophy
28 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.020 1.000 2 2016 2017
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
Conn Syndrome
CUI: C1384514
Disease: Conn Syndrome
25 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
Endothelial dysfunction
CUI: C0856169
Disease: Endothelial dysfunction
25 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
Multinodular goiter
CUI: C0342208
Disease: Multinodular goiter
6 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
Muscular Dystrophy, Emery-Dreifuss
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
18 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
Progeria
CUI: C0033300
Disease: Progeria
41 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011