rs312262720, SPG11

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 11, autosomal recessive
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
134 0.882 0.120 15 44657230 frameshift variant AT/- del 4.9E-05 0.700 1.000 14 2007 2016
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
41 0.882 0.120 15 44657230 frameshift variant AT/- del 4.9E-05 0.700 1.000 1 2017 2017
AMYOTROPHIC LATERAL SCLEROSIS 5
CUI: C1865864
Disease: AMYOTROPHIC LATERAL SCLEROSIS 5
8 0.882 0.120 15 44657230 frameshift variant AT/- del 4.9E-05 0.700 0
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.882 0.120 15 44657230 frameshift variant AT/- del 4.9E-05 0.700 0
Lower limb spasticity
CUI: C1271100
Disease: Lower limb spasticity
5 0.882 0.120 15 44657230 frameshift variant AT/- del 4.9E-05 0.700 0