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: rs760543
rs760543
0.925 0.080 22 33435602 intron variant C/T snv 0.38
CUI: C0037769
Disease: West Syndrome
West Syndrome
Nervous System Diseases 0.010 1.000 1 2014 2014