Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201920319
rs201920319
THG1L
0.925 5 157731604 missense variant T/C snv 2.1E-04 1.2E-04
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.020 1.000 2 2016 2019
dbSNP: rs201920319
rs201920319
THG1L
0.925 5 157731604 missense variant T/C snv 2.1E-04 1.2E-04
CUI: C0852975
Disease: Congenital cerebellar ataxia
Congenital cerebellar ataxia 		0.010 1.000 1 2019 2019
dbSNP: rs201920319
rs201920319
THG1L
0.925 5 157731604 missense variant T/C snv 2.1E-04 1.2E-04
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs 		0.010 1.000 1 2016 2016
dbSNP: rs201920319
rs201920319
THG1L
0.925 5 157731604 missense variant T/C snv 2.1E-04 1.2E-04
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.010 1.000 1 2016 2016