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: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0394005
Disease: Ataxic cerebral palsy
Ataxic cerebral palsy
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2003 2003