rs879253798, SPG7

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.
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 1.000 0.080 16 89524099 frameshift variant TC/- delins 0.700 1.000 1 2016 2016
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 1.000 0.080 16 89524099 frameshift variant TC/- delins 0.700 1.000 1 2016 2016
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
38 1.000 0.080 16 89524099 frameshift variant TC/- delins 0.700 1.000 1 2016 2016