Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104893915
SLC26A2
0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 6
rs104893916
SLC26A2
0.882 0.120 5 149981626 missense variant G/T snv 4.0E-06 2.1E-05 3
rs104893918
SLC26A2
0.851 0.120 5 149981737 missense variant C/T snv 3.6E-05 2.8E-05 4
rs104893919
SLC26A2
0.851 0.120 5 149978184 stop gained C/T snv 1.3E-04 1.2E-04 5
rs104893920
SLC26A2
0.882 0.120 5 149980866 missense variant A/G snv 2
rs104893921
SLC26A2
0.925 0.120 5 149980954 missense variant A/C snv 7.0E-06 2
rs104893924
SLC26A2
0.851 0.120 5 149981550 missense variant T/A snv 1.1E-04 1.3E-04 5
rs1057517461
SLC26A2
0.851 0.120 5 149978353 splice donor variant T/C snv 4
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
rs1057517483
SLC26A2
0.851 0.120 5 149978193 stop gained C/T snv 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
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