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: rs2236225
rs2236225
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2012 2014