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: rs755686699
rs755686699
3 0.882 0.200 X 22221653 stop gained G/A;T snv 5.5E-06 0.010 1.000 1 2007 2007
dbSNP: rs886039584
rs886039584
3 0.882 0.200 X 22114493 stop gained G/A snv 0.010 1.000 1 2019 2019