Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199497486
rs199497486
ALDH7A1
1 1.000 0.080 5 126592663 splice donor variant C/T snv 3.2E-05 7.0E-06 0.700 0
dbSNP: rs1057516085
rs1057516085
KCNQ2
8 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs74315391
rs74315391
KCNQ2
6 0.827 0.120 20 63444730 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs796052621
rs796052621
KCNQ2
6 0.827 0.080 20 63444756 missense variant C/T snv 0.010 1.000 1 2017 2017