rs201920319, THG1L

N. diseases: 4
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 atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.925 5 157731604 missense variant T/C snv 2.1E-04 1.2E-04 0.020 1.000 2 2016 2019
Cerebellar signs
CUI: C0742038
Disease: Cerebellar signs
5 0.925 5 157731604 missense variant T/C snv 2.1E-04 1.2E-04 0.010 1.000 1 2016 2016
Congenital cerebellar ataxia
CUI: C0852975
Disease: Congenital cerebellar ataxia
2 0.925 5 157731604 missense variant T/C snv 2.1E-04 1.2E-04 0.010 1.000 1 2019 2019
Pyramidal sign
CUI: C0234132
Disease: Pyramidal sign
10 0.925 5 157731604 missense variant T/C snv 2.1E-04 1.2E-04 0.010 1.000 1 2016 2016