Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886039812
DYNC2H1
0.882 0.160 11 103155395 missense variant T/G snv 7
rs386833492
SLC26A2
0.851 0.120 5 149960981 splice donor variant T/C snv 5.4E-04 5
rs386833505
SLC26A2
1.000 0.120 5 149977699 stop gained C/G;T snv 4.0E-06 1
rs386833507
SLC26A2
1.000 0.120 5 149977707 stop gained G/T snv 2
rs1057517523
SLC26A2
0.851 0.120 5 149977837 stop gained C/G snv 4
rs1057517496
SLC26A2
0.851 0.120 5 149977840 frameshift variant A/- del 4
rs1057517462
SLC26A2
0.851 0.120 5 149977857 frameshift variant T/- delins 4
rs1057517504
SLC26A2
0.851 0.120 5 149977886 frameshift variant -/GCAGT delins 4
rs386833502
SLC26A2
1.000 0.120 5 149977906 frameshift variant C/- delins 1
rs386833503
SLC26A2
1.000 0.120 5 149977983 missense variant G/T snv 1
rs786200881
SLC26A2
0.851 0.120 5 149978041 frameshift variant C/- delins 4
rs267607055
SLC26A2
1.000 0.120 5 149978050 missense variant C/T snv 8.0E-06 7.0E-06 1
rs763198695
SLC26A2
0.851 0.120 5 149978135 frameshift variant TG/- delins 4.0E-06 7.0E-06 5
rs386833506
SLC26A2
1.000 0.120 5 149978148 missense variant G/A snv 1
rs104893919
SLC26A2
0.851 0.120 5 149978184 stop gained C/T snv 1.3E-04 1.2E-04 5
rs1057517483
SLC26A2
0.851 0.120 5 149978193 stop gained C/T snv 4
rs1057517461
SLC26A2
0.851 0.120 5 149978353 splice donor variant T/C snv 4
rs200963884
SLC26A2
0.925 0.120 5 149980292 splice acceptor variant G/C snv 4.9E-05 2
rs386833508
SLC26A2
1.000 0.120 5 149980296 frameshift variant GATGGGC/- delins 1
rs1057517524
SLC26A2
0.851 0.120 5 149980326 frameshift variant GTCT/- delins 4
rs1057517514
SLC26A2
0.851 0.120 5 149980339 stop gained C/G snv 4
rs104893915
SLC26A2
0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 6
rs386833509
SLC26A2
1.000 0.120 5 149980496 frameshift variant CT/- delins 1
rs1057517526
SLC26A2
0.851 0.120 5 149980511 frameshift variant C/- del 4
rs1057517495
SLC26A2
0.851 0.120 5 149980515 frameshift variant A/- del 4