rs797044850, SPAST

N. diseases: 3
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.
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 1.000 0.080 2 32127017 missense variant A/G snv 0.700 1.000 21 1999 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 0.080 2 32127017 missense variant A/G snv 0.700 1.000 21 1999 2016
Spastic paraplegia 4, autosomal dominant
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
101 1.000 0.080 2 32127017 missense variant A/G snv 0.700 0