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: rs13397210
rs13397210
0.925 0.080 2 166065518 intron variant C/G;T snv
CUI: C0037769
Disease: West Syndrome
West Syndrome
Nervous System Diseases 0.010 1.000 1 2014 2014