rs1060502227, SPAST

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 4, autosomal dominant
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
101 0.851 0.120 2 32136593 missense variant C/G;T snv 0.700 1.000 8 2000 2012
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.851 0.120 2 32136593 missense variant C/G;T snv 0.700 0
Little's Disease
CUI: C0023882
Disease: Little's Disease
6 0.851 0.120 2 32136593 missense variant C/G;T snv 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.851 0.120 2 32136593 missense variant C/G;T snv 0.700 0
Tip-toe gait
CUI: C1843570
Disease: Tip-toe gait
1 0.851 0.120 2 32136593 missense variant C/G;T snv 0.700 0
Valgus deformities of feet
CUI: C1578482
Disease: Valgus deformities of feet
7 0.851 0.120 2 32136593 missense variant C/G;T snv 0.700 0