rs60864230, LMNA

N. diseases: 7
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 0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 0.800 0
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 5 2001 2005
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
74 0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 0.700 0
Progeria Syndrome, Childhood-Onset
CUI: C2750285
Disease: Progeria Syndrome, Childhood-Onset
3 0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 0.700 0
Atypical Werner syndrome
CUI: C4275075
Disease: Atypical Werner syndrome
4 0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2005 2005
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2005 2005