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: rs28939087
rs28939087
1 1.000 0.080 11 45806240 missense variant C/T snv 0.800 1.000 2 2001 2001
dbSNP: rs1554953926
rs1554953926
1 1.000 0.080 11 45811241 missense variant C/A snv 0.700 0
dbSNP: rs28937886
rs28937886
1 1.000 0.080 11 45811163 missense variant C/G snv 0.700 0
dbSNP: rs398124345
rs398124345
1 1.000 0.080 11 45805892 stop gained G/A;T snv 0.700 0
dbSNP: rs587777655
rs587777655
1 1.000 0.080 11 45806302 inframe deletion TCT/- delins 0.700 0
dbSNP: rs751828447
rs751828447
1 1.000 0.080 11 45811112 missense variant C/G;T snv 8.0E-06 0.700 0