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: rs116855232
rs116855232
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.020 1.000 2 2015 2016
dbSNP: rs147390019
rs147390019
2 0.925 0.120 13 48045720 missense variant G/A snv 2.6E-03 2.2E-03 0.010 1.000 1 2016 2016
dbSNP: rs186364861
rs186364861
4 0.882 0.120 13 48037798 missense variant G/A snv 9.1E-04 2.4E-04 0.010 1.000 1 2016 2016