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
rs886039814
WDR19
0.807 0.200 4 39218060 missense variant C/G snv 13
rs886039809
KIAA0586
0.807 0.480 14 58498824 frameshift variant A/- del 11
rs886039794
LRRCC1 ; LOC105375933
0.851 0.480 8 85109594 splice acceptor variant G/C snv 8
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv 7
rs886039812
DYNC2H1
0.882 0.160 11 103155395 missense variant T/G snv 7
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
rs886039808
CEP290
0.851 0.480 12 88083848 stop gained C/T snv 5
rs886039810
TMEM67
0.851 0.480 8 93809830 missense variant G/C snv 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