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: rs121434402
rs121434402
2 0.925 0.080 11 95845063 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs1555060614
rs1555060614
1 1.000 0.080 11 95849673 splice donor variant C/T snv 0.700 1.000 1 2000 2000
dbSNP: rs1555061026
rs1555061026
1 1.000 0.080 11 95850598 splice donor variant A/C snv 0.700 1.000 1 2000 2000
dbSNP: rs1565351898
rs1565351898
1 1.000 0.080 11 95850599 splice donor variant C/G snv 0.700 1.000 1 2000 2000
dbSNP: rs121434403
rs121434403
2 0.925 0.080 11 95849841 stop gained C/A;T snv 0.700 0
dbSNP: rs1358449243
rs1358449243
1 1.000 0.080 11 95861995 frameshift variant CA/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1555057316
rs1555057316
1 1.000 0.080 11 95838148 frameshift variant -/TA delins 0.700 0
dbSNP: rs757563721
rs757563721
1 1.000 0.080 11 95849835 stop gained G/A;T snv 0.700 0
dbSNP: rs863224516
rs863224516
1 1.000 0.080 11 95847859 frameshift variant T/- delins 0.700 0