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: rs974671846
rs974671846
3 0.925 0.160 2 178592211 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs876657673
rs876657673
1 2 178739618 frameshift variant -/A delins 0.700 0
dbSNP: rs876657672
rs876657672
1 2 178537244 splice acceptor variant C/T snv 0.700 0
dbSNP: rs876657671
rs876657671
1 2 178543876 stop gained G/A snv 0.700 0
dbSNP: rs876657670
rs876657670
2 2 178560622 stop gained C/A;T snv 0.700 0
dbSNP: rs876657669
rs876657669
1 2 178573299 frameshift variant -/T delins 0.700 0
dbSNP: rs876657668
rs876657668
1 2 178585348 splice acceptor variant C/G snv 0.700 0
dbSNP: rs876657667
rs876657667
1 2 178586809 splice acceptor variant T/C snv 0.700 0
dbSNP: rs876657666
rs876657666
3 0.925 0.160 2 178588815 frameshift variant -/G delins 0.700 0
dbSNP: rs876657665
rs876657665
1 2 178614754 splice acceptor variant C/G snv 0.700 0
dbSNP: rs876657664
rs876657664
1 2 178636088 frameshift variant G/- delins 4.0E-06 0.700 0
dbSNP: rs876657663
rs876657663
1 2 178759040 splice donor variant CGTGTAA/- delins 0.700 0
dbSNP: rs869312122
rs869312122
2 1.000 0.120 2 178535516 frameshift variant -/A ins 0.700 0
dbSNP: rs869312121
rs869312121
1 2 178546476 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs869312120
rs869312120
1 2 178557372 frameshift variant AAGT/- del 0.700 0
dbSNP: rs869312119
rs869312119
2 1.000 0.040 2 178561756 stop gained G/A snv 0.700 0
dbSNP: rs869312118
rs869312118
3 0.925 0.160 2 178562617 stop gained G/A snv 0.700 0
dbSNP: rs869312117
rs869312117
1 2 178568034 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs869312116
rs869312116
1 2 178571248 frameshift variant -/GTTT delins 4.0E-06 0.700 0
dbSNP: rs869312115
rs869312115
1 2 178573023 stop gained C/T snv 0.700 0
dbSNP: rs869312114
rs869312114
1 2 178576255 stop gained C/A snv 0.700 0
dbSNP: rs869312113
rs869312113
1 2 178576752 frameshift variant AC/- delins 0.700 0
dbSNP: rs869312112
rs869312112
3 0.925 0.160 2 178590230 stop gained G/A snv 0.700 0
dbSNP: rs869312111
rs869312111
1 2 178592653 frameshift variant A/- del 0.700 0
dbSNP: rs869312110
rs869312110
1 2 178598876 frameshift variant C/- delins 0.700 0