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: rs1014959895
rs1014959895
16 0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1057516230
rs1057516230
2 0.925 0.080 1 21554124 frameshift variant AACT/- delins 0.700 0
dbSNP: rs1057518967
rs1057518967
2 1.000 0.040 7 94423102 missense variant G/A snv 0.700 0
dbSNP: rs116571438
rs116571438
2 0.925 0.080 12 109788483 missense variant G/A;T snv 8.0E-06 0.700 0
dbSNP: rs1209546147
rs1209546147
1 1.000 0.040 12 47980597 missense variant C/T snv 0.700 0
dbSNP: rs121912632
rs121912632
3 0.882 0.080 12 109792407 missense variant C/T snv 0.700 0
dbSNP: rs121912633
rs121912633
10 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs121912634
rs121912634
2 0.925 0.080 12 109798768 missense variant T/C snv 0.700 0
dbSNP: rs121912635
rs121912635
2 0.925 0.080 12 109788462 missense variant C/A snv 0.700 0
dbSNP: rs121912636
rs121912636
2 0.925 0.120 12 109798775 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs121912637
rs121912637
5 0.851 0.160 12 109784378 missense variant G/A;C snv 0.700 0
dbSNP: rs121918130
rs121918130
18 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
dbSNP: rs1251713297
rs1251713297
15 0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 0.700 0
dbSNP: rs1400419650
rs1400419650
38 0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1555386022
rs1555386022
38 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
dbSNP: rs181011657
rs181011657
3 0.882 0.120 11 103257719 stop gained C/T snv 6.8E-05 1.4E-04 0.700 0
dbSNP: rs267607147
rs267607147
2 0.925 0.120 12 109784379 missense variant G/A;C snv 0.700 0
dbSNP: rs267607148
rs267607148
4 0.882 0.120 12 109800639 missense variant C/T snv 0.700 0
dbSNP: rs267607149
rs267607149
5 0.851 0.120 12 109784385 missense variant C/T snv 0.700 0
dbSNP: rs267607150
rs267607150
2 0.925 0.080 12 109792671 missense variant T/C snv 0.700 0
dbSNP: rs369091875
rs369091875
2 0.925 0.240 11 6633485 missense variant C/G;T snv 1.1E-03 0.700 0
dbSNP: rs387906324
rs387906324
2 0.925 0.080 12 109808308 missense variant C/T snv 0.700 0
dbSNP: rs387906902
rs387906902
3 0.925 0.080 12 109793560 missense variant G/C;T snv 4.0E-06 0.700 0
dbSNP: rs387906903
rs387906903
2 0.925 0.120 12 109803113 missense variant T/C snv 0.700 0
dbSNP: rs387906904
rs387906904
5 0.851 0.080 12 109803009 missense variant G/A snv 0.700 0