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: rs104894360
rs104894360
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs1057517542
rs1057517542
2 1.000 0.080 16 68829653 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1060501214
rs1060501214
1 1.000 0.080 16 68810201 frameshift variant TC/- delins 0.700 0
dbSNP: rs1060501248
rs1060501248
3 1.000 0.080 16 68829679 frameshift variant G/- delins 0.700 0
dbSNP: rs1064795703
rs1064795703
1 1.000 0.080 16 68801820 frameshift variant C/- delins 0.700 0
dbSNP: rs1131690810
rs1131690810
2 1.000 0.080 16 68815725 stop gained C/T snv 0.700 0
dbSNP: rs1131690819
rs1131690819
2 1.000 0.080 16 68810229 frameshift variant T/- del 0.700 0
dbSNP: rs121964873
rs121964873
2 0.925 0.080 16 68810290 stop gained G/A;T snv 1.2E-05 0.700 0
dbSNP: rs121964874
rs121964874
1 1.000 0.080 16 68823557 stop gained C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121964878
rs121964878
1 1.000 0.080 16 68822190 missense variant C/T snv 0.700 0
dbSNP: rs149127230
rs149127230
1 1.000 0.080 16 68823566 stop gained G/A;C;T snv 1.7E-04; 4.0E-06 0.700 0
dbSNP: rs1555514406
rs1555514406
1 1.000 0.080 16 68801709 frameshift variant -/T delins 0.700 0
dbSNP: rs1555514464
rs1555514464
2 1.000 0.080 16 68801814 stop gained G/A snv 0.700 0
dbSNP: rs1555515214
rs1555515214
2 1.000 0.080 16 68808493 frameshift variant AAGA/- del 0.700 0
dbSNP: rs1555515215
rs1555515215
1 1.000 0.080 16 68808503 stop gained G/A snv 0.700 0
dbSNP: rs1555515284
rs1555515284
1 1.000 0.080 16 68808816 frameshift variant C/- delins 0.700 0
dbSNP: rs1555515297
rs1555515297
1 1.000 0.080 16 68808850 splice donor variant T/C snv 0.700 0
dbSNP: rs1555515726
rs1555515726
1 1.000 0.080 16 68812177 stop gained C/T snv 0.700 0
dbSNP: rs1555515731
rs1555515731
4 0.882 0.160 16 68812189 frameshift variant T/- delins 0.700 0
dbSNP: rs1555515739
rs1555515739
2 1.000 0.080 16 68812211 frameshift variant T/- del 0.700 0
dbSNP: rs1555516520
rs1555516520
1 1.000 0.080 16 68819278 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555516545
rs1555516545
1 1.000 0.080 16 68819325 frameshift variant G/- delins 0.700 0
dbSNP: rs1555516896
rs1555516896
1 1.000 0.080 16 68822206 frameshift variant CA/- del 0.700 0
dbSNP: rs1555517074
rs1555517074
2 1.000 0.080 16 68823409 frameshift variant AT/-;ATAT delins 0.700 0
dbSNP: rs1555517100
rs1555517100
2 1.000 0.080 16 68823489 frameshift variant -/C delins 0.700 0