Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs373844629
DNAH11
1.000 0.160 7 21690844 stop gained C/T snv 8.1E-06 1.4E-05 2
rs375053470
DNAH5
5 13794031 stop gained G/A snv 1.6E-05; 4.0E-06 1.4E-05 2
rs387907092
CCDC40
1.000 0.120 17 80082020 stop gained C/A;T snv 4.0E-06 2
rs397515621
DNAAF4 ; DNAAF4-CCPG1
1.000 15 55439557 stop gained G/A;C snv 1.2E-05 2
rs571919972
DNAH5
1.000 0.160 5 13758881 stop gained G/A snv 5.2E-05 4.2E-05 2
rs587777635
RSPH1
1.000 21 42486455 stop gained C/T snv 2
rs745918507
DNAH5
1.000 0.160 5 13820424 stop gained G/A snv 1.2E-05 2.8E-05 2
rs752924362
DNAI2
1.000 0.160 17 74309345 stop gained G/A;C snv 1.6E-04; 4.0E-06 2
rs754867753
CCDC40
1.000 0.120 17 80050085 stop gained C/T snv 2.4E-05 7.0E-06 2
rs770403610
DNAAF3 ; LOC101930593
1.000 0.160 19 55162263 stop gained C/T snv 2.1E-05 2
rs775720394
DNAH11
1.000 0.160 7 21899355 stop gained C/A;T snv 1.6E-05; 1.2E-05 2
rs776686983
DNAH5
1.000 0.160 5 13900241 stop gained G/A snv 8.0E-06 1.4E-05 2
rs781469274
DNAH5
5 13792128 stop gained G/A snv 3.2E-05 7.0E-06 2
rs797045085
DNAH11
1.000 0.160 7 21749750 stop gained C/T snv 7.0E-06 2
rs1034327724
RSPH4A
6 116628160 stop gained C/T snv 8.0E-06 2.1E-05 1
rs1060501181
RPGR
X 38297332 stop gained G/A snv 1
rs1060501455
DNAH5
5 13788898 stop gained C/T snv 1
rs1060501456
DNAH5
5 13721014 stop gained G/A snv 7.0E-06 1
rs1060501458
DNAH5
5 13891020 stop gained G/A snv 7.0E-06 1
rs1060501467
DNAH5
5 13708130 stop gained C/A;T snv 1
rs1060502202
DNAI2
17 74301057 stop gained G/A snv 1
rs1060502829
DNAAF1
16 84149072 stop gained C/T snv 1
rs1060503063
DNAH11
7 21842641 stop gained C/T snv 1.4E-05 1
rs1060503388
CCNO
5 55231653 stop gained G/A snv 5.3E-06 1
rs1060503433
EFTUD2 ; FAM187A ; CCDC103
17 44901113 stop gained C/T snv 1