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: rs146163970
rs146163970
1 1.000 0.120 22 50582319 missense variant G/A snv 3.0E-04 2.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs763993653
rs763993653
1 1.000 0.120 22 50579808 missense variant A/T snv 4.0E-06 0.010 1.000 1 2016 2016