Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886039814
WDR19
0.807 0.200 4 39218060 missense variant C/G snv 13
rs751375244
TRAPPC3
0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 6
rs886039810
TMEM67
0.851 0.480 8 93809830 missense variant G/C snv 5
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 11
rs104893915
SLC26A2
0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 6
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
rs104893918
SLC26A2
0.851 0.120 5 149981737 missense variant C/T snv 3.6E-05 2.8E-05 4
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