Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2270813
rs2270813 		5 157737881 splice region variant T/A;C snv 0.64
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs2270813
rs2270813 		5 157737881 splice region variant T/A;C snv 0.64
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs6892723
rs6892723 		5 157740309 3 prime UTR variant C/G snv 0.35
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs201920319
rs201920319 		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 		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 		0.925 5 157731604 missense variant T/C snv 2.1E-04 1.2E-04
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs201920319
rs201920319 		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