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: rs200785483
rs200785483
1 1.000 0.080 1 62597951 stop gained G/A;T snv 1.5E-05 0.700 0
dbSNP: rs267606655
rs267606655
1 1.000 0.080 1 62597616 stop gained CC/GA mnv 0.700 0
dbSNP: rs398122985
rs398122985
1 1.000 0.080 1 62604236 splice donor variant G/T snv 0.700 0
dbSNP: rs398122986
rs398122986
1 1.000 0.080 1 62597620 frameshift variant A/- delins 0.700 0
dbSNP: rs398122987
rs398122987
1 1.000 0.080 1 62597997 frameshift variant AACT/- delins 0.700 0
dbSNP: rs398122988
rs398122988
1 1.000 0.080 1 62597922 frameshift variant CTCAA/- delins 0.700 0
dbSNP: rs398122989
rs398122989
1 1.000 0.080 1 62602332 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0