rs121908514, SPAST

N. diseases: 2
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 4, autosomal dominant
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
101 0.925 0.080 2 32127006 missense variant A/G snv 0.800 1.000 20 1999 2014
Hereditary Autosomal Dominant Spastic Paraplegia
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
7 0.925 0.080 2 32127006 missense variant A/G snv 0.010 1.000 1 2004 2004