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: rs117067974
rs117067974
0.851 0.080 20 63414174 missense variant C/A;G snv 2.0E-05; 2.6E-03
CUI: C3889476
Disease: Benign Familial Convulsion
Benign Familial Convulsion
Nervous System Diseases 0.020 1.000 2 2015 2017
dbSNP: rs118192202
rs118192202
0.882 0.080 20 63444714 missense variant T/A;C snv
CUI: C3889476
Disease: Benign Familial Convulsion
Benign Familial Convulsion
Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs118192211
rs118192211
0.790 0.080 20 63439644 missense variant G/A;C snv
CUI: C3889476
Disease: Benign Familial Convulsion
Benign Familial Convulsion
Nervous System Diseases 0.010 1.000 1 2014 2014