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: rs587777670
rs587777670
1.000 0.080 6 53270660 stop gained C/A;T snv 4.0E-06
CUI: C4518337
Disease: Spinocerebellar ataxia type 38
Spinocerebellar ataxia type 38
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs587777671
rs587777671
1.000 0.080 6 53291808 missense variant G/C snv
CUI: C4518337
Disease: Spinocerebellar ataxia type 38
Spinocerebellar ataxia type 38
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2014 2014