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: rs781249411
rs781249411
0.925 0.080 12 57515926 missense variant C/A snv 3.6E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0