rs57629361, LMNA

N. diseases: 4
Source: INFERRED ×
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.
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06 0.800 1.000 11 1991 2014
Progeria
CUI: C0033300
Disease: Progeria
0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06 0.710 1.000 0 2006 2006
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06 0.700 1.000 2 2003 2014
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06 0.700 0