rs57520892, LMNA

N. diseases: 4
Source: CURATED ×
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
8 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
20 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)
71 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
138 0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05 0.700 1.000 10 1999 2015