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: rs61755320
rs61755320
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0004134
Disease: Ataxia
Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.720 1.000 3 2016 2019
dbSNP: rs121918358
rs121918358
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04
CUI: C0004134
Disease: Ataxia
Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016