Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs886039809
KIAA0586
0.807 0.480 14 58498824 frameshift variant A/- del 11
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
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
rs386833497
SLC26A2
0.851 0.120 5 149981243 frameshift variant G/- del 8.0E-06 2.8E-05 4
rs762137330
SLC26A2
0.851 0.120 5 149981575 frameshift variant C/- del 8.0E-06 4
rs386833500
SLC26A2
1.000 0.120 5 149981576 frameshift variant A/- del 1
rs386833501
SLC26A2
1.000 0.120 5 149981713 frameshift variant TT/- del 1
rs121908077
SLC26A2
0.851 0.120 5 149980603 inframe insertion TGTTGT/-;TGT;TGTTGTTGT delins 3.5E-05 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
rs1057517462
SLC26A2
0.851 0.120 5 149977857 frameshift variant T/- delins 4
rs1057517471
SLC26A2
0.851 0.120 5 149980903 frameshift variant -/T delins 4
rs1057517474
SLC26A2
0.851 0.120 5 149981546 frameshift variant ACTG/- delins 4
rs1057517482
SLC26A2
0.851 0.120 5 149981240 frameshift variant A/- delins 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
rs1057517524
SLC26A2
0.851 0.120 5 149980326 frameshift variant GTCT/- delins 4
rs386833495
SLC26A2
0.851 0.120 5 149980984 frameshift variant T/- delins 4
rs386833499
SLC26A2
0.851 0.120 5 149981565 frameshift variant T/- delins 4
rs786200881
SLC26A2
0.851 0.120 5 149978041 frameshift variant C/- delins 4