Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121908077
SLC26A2
0.851 0.120 5 149980603 inframe insertion TGTTGT/-;TGT;TGTTGTTGT delins 3.5E-05 5
rs1057517532
SLC26A2
0.851 0.120 5 149980653 stop gained G/T snv 4
rs386833493
SLC26A2
1.000 0.120 5 149980750 missense variant C/G;T snv 4.0E-06 1
rs386833494
SLC26A2
1.000 0.120 5 149980834 frameshift variant AAAC/- delins 1
rs104893920
SLC26A2
0.882 0.120 5 149980866 missense variant A/G snv 2
rs1057517471
SLC26A2
0.851 0.120 5 149980903 frameshift variant -/T delins 4
rs1057517502
SLC26A2
0.851 0.120 5 149980929 frameshift variant A/- delins 4
rs104893921
SLC26A2
0.925 0.120 5 149980954 missense variant A/C snv 7.0E-06 2
rs386833495
SLC26A2
0.851 0.120 5 149980984 frameshift variant T/- delins 4
rs386833496
SLC26A2
1.000 0.120 5 149981044 missense variant G/A snv 1.4E-05 1
rs121908078
SLC26A2
0.925 0.120 5 149981128 missense variant C/A snv 4.8E-05 7.0E-06 2
rs1057517511
SLC26A2
0.851 0.120 5 149981129 frameshift variant -/GTTAT delins 4
rs1057517482
SLC26A2
0.851 0.120 5 149981240 frameshift variant A/- delins 4
rs386833497
SLC26A2
0.851 0.120 5 149981243 frameshift variant G/- del 8.0E-06 2.8E-05 4
rs766836061
SLC26A2
0.851 0.120 5 149981300 stop gained C/G;T snv 4.0E-06 5
rs386833498
SLC26A2
0.851 0.120 5 149981316 frameshift variant A/- delins 5
rs1057517530
SLC26A2
0.851 0.120 5 149981399 frameshift variant AACT/- del 4
rs1057517474
SLC26A2
0.851 0.120 5 149981546 frameshift variant ACTG/- delins 4
rs104893924
SLC26A2
0.851 0.120 5 149981550 missense variant T/A snv 1.1E-04 1.3E-04 5
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
rs386833500
SLC26A2
1.000 0.120 5 149981576 frameshift variant A/- del 1
rs1057517513
SLC26A2
0.851 0.120 5 149981586 frameshift variant AC/- delins 4
rs104893916
SLC26A2
0.882 0.120 5 149981626 missense variant G/T snv 4.0E-06 2.1E-05 3
rs386833501
SLC26A2
1.000 0.120 5 149981713 frameshift variant TT/- del 1