rs59885338, 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.
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05 0.730 1.000 3 2003 2008
Charcot-Marie-Tooth disease, Type 2B1
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
6 0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05 0.700 1.000 5 2002 2008
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05 0.700 1.000 3 2004 2008
Progeria
CUI: C0033300
Disease: Progeria
41 0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05 0.700 0