Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060503433
EFTUD2 ; FAM187A ; CCDC103
17 44901113 stop gained C/T snv 1
rs1060503495
DNAI1
9 34485216 frameshift variant T/- del 4.0E-06 1
rs1060503515
DNAI1
9 34506748 frameshift variant C/- delins 1
rs1064792947
RSPH1
21 42482620 splice donor variant GCTCCGCAACTTACCAT/- delins 1
rs1159887305
LOC101930593 ; DNAAF3
19 55162240 frameshift variant GCGGGCGCAGC/- del 1
rs1161303371
DNAH5
5 13700730 missense variant A/G snv 1
rs1164659091
DNAH11
7 21681585 stop gained G/T snv 1
rs116938457
DNAI1
9 34489431 missense variant C/G;T snv 4.1E-04 1
rs1175443221
DNAH11
7 21862024 splice donor variant G/A snv 1
rs1175877764
DNAH5
5 13776577 stop gained G/A snv 1
rs1188507108
DNAH5
5 13850707 stop gained G/A;T snv 1
rs1193586811
DNAH5
5 13792038 stop gained G/A snv 1.2E-05 3.5E-05 1
rs1200826286
DNAAF4-CCPG1 ; DNAAF4
15 55498274 missense variant A/G;T snv 4.0E-06; 4.0E-06 1
rs1210953680
CCDC39
3 180652161 splice donor variant A/T snv 1
rs1212535211
DNAH11 ; CDCA7L
7 21901191 frameshift variant CGAAGAG/- delins 1
rs121918300
EPDR1 ; NME8
7 37888306 stop gained T/A;C snv 8.4E-05 1
rs1223799853
DNAH8-AS1 ; DNAH8
6 38906363 stop gained G/T snv 8.0E-06 1
rs1233603821
DNAAF1
16 84165849 frameshift variant AGGGAGC/- delins 8.0E-06 1
rs1233811324
RSPH9
6 43645215 stop gained C/A snv 1.2E-05 1
rs1240172375
DNAI2
17 74310088 frameshift variant G/- delins 7.0E-06 1
rs1261703349
CDCA7L ; DNAH11
7 21901024 stop gained C/G;T snv 4.1E-06 7.0E-06 1
rs1275367324
CCDC39
3 180651409 frameshift variant C/- del 5.9E-06 1
rs1275718084
DNAH11
7 21702794 stop gained G/A;T snv 7.0E-06 1
rs1283070426
DNAH5
5 13753247 stop gained G/A snv 4.0E-06 1
rs1285431486
CCDC39
3 180642111 frameshift variant C/- del 4.0E-06 1