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: rs10425452
rs10425452
1.000 0.080 19 40397853 missense variant G/A snv 1.6E-04 6.1E-04
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013