Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1057517471
SLC26A2
0.851 0.120 5 149980903 frameshift variant -/T delins 4
rs886039809
KIAA0586
0.807 0.480 14 58498824 frameshift variant A/- del 11
rs386833498
SLC26A2
0.851 0.120 5 149981316 frameshift variant A/- delins 5
rs1057517482
SLC26A2
0.851 0.120 5 149981240 frameshift variant A/- delins 4
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
rs386833500
SLC26A2
1.000 0.120 5 149981576 frameshift variant A/- del 1
rs886039797
BBS2
0.807 0.280 16 56502807 missense variant A/C snv 4.0E-06 7
rs104893921
SLC26A2
0.925 0.120 5 149980954 missense variant A/C snv 7.0E-06 2
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 11
rs104893920
SLC26A2
0.882 0.120 5 149980866 missense variant A/G snv 2
rs386833494
SLC26A2
1.000 0.120 5 149980834 frameshift variant AAAC/- delins 1
rs1057517530
SLC26A2
0.851 0.120 5 149981399 frameshift variant AACT/- del 4
rs1057517513
SLC26A2
0.851 0.120 5 149981586 frameshift variant AC/- delins 4
rs1057517474
SLC26A2
0.851 0.120 5 149981546 frameshift variant ACTG/- delins 4
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs1057517526
SLC26A2
0.851 0.120 5 149980511 frameshift variant C/- del 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
rs386833502
SLC26A2
1.000 0.120 5 149977906 frameshift variant C/- delins 1
rs121908078
SLC26A2
0.925 0.120 5 149981128 missense variant C/A snv 4.8E-05 7.0E-06 2
rs886039814
WDR19
0.807 0.200 4 39218060 missense variant C/G snv 13