rs104894490, NIPA1

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.
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
2 0.827 0.240 15 22812252 missense variant G/A;C snv 0.800 1.000 4 2003 2013
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
41 0.827 0.240 15 22812252 missense variant G/A;C snv 0.700 1.000 1 2017 2017
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.827 0.240 15 22812252 missense variant G/A;C snv 0.700 0
Henoch-Schoenlein Purpura
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
59 0.827 0.240 15 22812252 missense variant G/A;C snv 0.010 1.000 1 2011 2011
Hereditary Autosomal Dominant Spastic Paraplegia
7 0.827 0.240 15 22812252 missense variant G/A;C snv 0.010 1.000 1 2005 2005