rs587777132, ALS2

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.
Hereditary spastic paralysis, infantile onset ascending
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
15 0.882 0.120 2 201728592 stop gained G/A;T snv 0.700 0
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
10 0.882 0.120 2 201728592 stop gained G/A;T snv 0.010 1.000 1 2014 2014
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
41 0.882 0.120 2 201728592 stop gained G/A;T snv 0.010 1.000 1 2014 2014