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: rs387906684
rs387906684
0.851 0.120 2 165367327 stop gained G/A;T snv
CUI: C0037769
Disease: West Syndrome
West Syndrome
Nervous System Diseases 0.020 1.000 2 2009 2015
dbSNP: rs370114048
rs370114048
0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06
CUI: C0037769
Disease: West Syndrome
West Syndrome
Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs796053134
rs796053134
0.827 0.080 2 165374737 missense variant T/C snv
CUI: C0037769
Disease: West Syndrome
West Syndrome
Nervous System Diseases 0.010 1.000 1 2016 2016