rs57520892, LMNA

N. diseases: 8
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 156137204 missense variant G/A;C snv 4.1E-05 0.810 1.000 3 2002 2006
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
23 0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05 0.800 1.000 11 2000 2014
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
74 0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05 0.800 1.000 2 2012 2017
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05 0.700 1.000 10 1999 2015
Lipodystrophy
CUI: C0023787
Disease: Lipodystrophy
28 0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05 0.020 1.000 2 2003 2005
Muscular Dystrophy, Emery-Dreifuss
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
18 0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05 0.020 1.000 2 2003 2015
Partial lipodystrophy
CUI: C4316789
Disease: Partial lipodystrophy
11 0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05 0.020 1.000 2 2003 2003
Progeria
CUI: C0033300
Disease: Progeria
41 0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05 0.010 1.000 1 2006 2006