rs58912633, LMNA

N. diseases: 5
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 0.240 1 156130688 missense variant C/G;T snv 0.730 1.000 12 2003 2015
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
19 0.851 0.240 1 156130688 missense variant C/G;T snv 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.851 0.240 1 156130688 missense variant C/G;T snv 0.030 1.000 3 2005 2008
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
584 0.851 0.240 1 156130688 missense variant C/G;T snv 0.010 1.000 1 2008 2008
Muscular Dystrophy, Emery-Dreifuss
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
18 0.851 0.240 1 156130688 missense variant C/G;T snv 0.010 1.000 1 2005 2005