Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057517495
SLC26A2
0.851 0.120 5 149980515 frameshift variant A/- del 4
rs1057517496
SLC26A2
0.851 0.120 5 149977840 frameshift variant A/- del 4
rs1057517502
SLC26A2
0.851 0.120 5 149980929 frameshift variant A/- delins 4
rs1057517504
SLC26A2
0.851 0.120 5 149977886 frameshift variant -/GCAGT delins 4
rs1057517511
SLC26A2
0.851 0.120 5 149981129 frameshift variant -/GTTAT delins 4
rs1057517513
SLC26A2
0.851 0.120 5 149981586 frameshift variant AC/- delins 4
rs1057517514
SLC26A2
0.851 0.120 5 149980339 stop gained C/G snv 4
rs1057517523
SLC26A2
0.851 0.120 5 149977837 stop gained C/G snv 4
rs1057517524
SLC26A2
0.851 0.120 5 149980326 frameshift variant GTCT/- delins 4
rs1057517526
SLC26A2
0.851 0.120 5 149980511 frameshift variant C/- del 4
rs1057517530
SLC26A2
0.851 0.120 5 149981399 frameshift variant AACT/- del 4
rs1057517532
SLC26A2
0.851 0.120 5 149980653 stop gained G/T snv 4
rs386833495
SLC26A2
0.851 0.120 5 149980984 frameshift variant T/- delins 4
rs386833497
SLC26A2
0.851 0.120 5 149981243 frameshift variant G/- del 8.0E-06 2.8E-05 4
rs386833499
SLC26A2
0.851 0.120 5 149981565 frameshift variant T/- delins 4
rs762137330
SLC26A2
0.851 0.120 5 149981575 frameshift variant C/- del 8.0E-06 4
rs786200881
SLC26A2
0.851 0.120 5 149978041 frameshift variant C/- delins 4
rs886039808
CEP290
0.851 0.480 12 88083848 stop gained C/T snv 5
rs104893919
SLC26A2
0.851 0.120 5 149978184 stop gained C/T snv 1.3E-04 1.2E-04 5
rs104893924
SLC26A2
0.851 0.120 5 149981550 missense variant T/A snv 1.1E-04 1.3E-04 5
rs121908077
SLC26A2
0.851 0.120 5 149980603 inframe insertion TGTTGT/-;TGT;TGTTGTTGT delins 3.5E-05 5
rs386833492
SLC26A2
0.851 0.120 5 149960981 splice donor variant T/C snv 5.4E-04 5
rs386833498
SLC26A2
0.851 0.120 5 149981316 frameshift variant A/- delins 5
rs763198695
SLC26A2
0.851 0.120 5 149978135 frameshift variant TG/- delins 4.0E-06 7.0E-06 5
rs766836061
SLC26A2
0.851 0.120 5 149981300 stop gained C/G;T snv 4.0E-06 5