rs57318642, LMNA

N. diseases: 4
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.
Progeria
CUI: C0033300
Disease: Progeria
41 0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05 0.820 1.000 13 2003 2013
Mandibuloacral dysostosis
CUI: C0432291
Disease: Mandibuloacral dysostosis
16 0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05 0.710 1.000 1 2008 2008
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05 0.700 0
Lipodystrophy
CUI: C0023787
Disease: Lipodystrophy
28 0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05 0.010 1.000 1 2008 2008