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: rs1557217723
rs1557217723
1 1.000 0.120 X 77875573 stop gained G/A snv 0.700 0
dbSNP: rs1569547878
rs1569547878
1 1.000 0.120 X 77841305 stop gained A/C snv 0.700 0
dbSNP: rs1569548146
rs1569548146
1 1.000 0.120 X 77870849 frameshift variant -/A delins 0.700 0
dbSNP: rs200934080
rs200934080
1 1.000 0.120 X 77895397 stop gained C/G;T snv 8.2E-05 0.700 0
dbSNP: rs387906724
rs387906724
1 1.000 0.120 X 77870885 stop gained G/A snv 0.700 0
dbSNP: rs782474570
rs782474570
1 1.000 0.120 X 77895441 frameshift variant TT/- delins 1.3E-04 0.700 0