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: rs104894104
rs104894104
7 0.790 0.160 9 21971019 missense variant G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs387906410
rs387906410
4 0.882 0.080 9 21971019 missense variant GC/AG mnv 0.010 1.000 1 2007 2007
dbSNP: rs575031539
rs575031539
2 0.925 0.080 9 21971020 missense variant C/G;T snv 4.2E-06 0.010 1.000 1 2007 2007