rs864622269, ATL1

N. diseases: 6
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.
Spastic paraplegia 3, autosomal dominant
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
18 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.800 1.000 19 2001 2014
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 3 2007 2013
Henoch-Schoenlein Purpura
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
59 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
41 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007