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
rs886039812
DYNC2H1
0.882 0.160 11 103155395 missense variant T/G snv 7
rs886039810
TMEM67
0.851 0.480 8 93809830 missense variant G/C snv 5
rs886039809
KIAA0586
0.807 0.480 14 58498824 frameshift variant A/- del 11
rs886039808
CEP290
0.851 0.480 12 88083848 stop gained C/T snv 5
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 11
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs886039797
BBS2
0.807 0.280 16 56502807 missense variant A/C snv 4.0E-06 7
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
rs786200881
SLC26A2
0.851 0.120 5 149978041 frameshift variant C/- delins 4
rs766836061
SLC26A2
0.851 0.120 5 149981300 stop gained C/G;T snv 4.0E-06 5
rs764109067
ARL13B
0.851 0.280 3 94036664 missense variant G/A;T snv 4.0E-06 6
rs763198695
SLC26A2
0.851 0.120 5 149978135 frameshift variant TG/- delins 4.0E-06 7.0E-06 5
rs762137330
SLC26A2
0.851 0.120 5 149981575 frameshift variant C/- del 8.0E-06 4
rs751375244
TRAPPC3
0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 6
rs386833509
SLC26A2
1.000 0.120 5 149980496 frameshift variant CT/- delins 1
rs386833508
SLC26A2
1.000 0.120 5 149980296 frameshift variant GATGGGC/- delins 1
rs386833507
SLC26A2
1.000 0.120 5 149977707 stop gained G/T snv 2
rs386833506
SLC26A2
1.000 0.120 5 149978148 missense variant G/A snv 1
rs386833505
SLC26A2
1.000 0.120 5 149977699 stop gained C/G;T snv 4.0E-06 1
rs386833503
SLC26A2
1.000 0.120 5 149977983 missense variant G/T snv 1
rs386833502
SLC26A2
1.000 0.120 5 149977906 frameshift variant C/- delins 1
rs386833501
SLC26A2
1.000 0.120 5 149981713 frameshift variant TT/- del 1
rs386833500
SLC26A2
1.000 0.120 5 149981576 frameshift variant A/- del 1