rs878854991, SPAST

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 4, autosomal dominant
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
101 0.882 0.080 2 32141906 missense variant G/A snv 0.800 1.000 25 1999 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.882 0.080 2 32141906 missense variant G/A snv 0.700 1.000 21 1999 2016
Dysarthria and anarthria
CUI: C0495694
Disease: Dysarthria and anarthria
1 0.882 0.080 2 32141906 missense variant G/A snv 0.010 1.000 1 2019 2019
Hereditary spastic paralysis, infantile onset ascending
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
15 0.882 0.080 2 32141906 missense variant G/A snv 0.010 1.000 1 2019 2019
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
41 0.882 0.080 2 32141906 missense variant G/A snv 0.010 1.000 1 2019 2019