Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs138320978
RSPH1
0.925 0.160 21 42493049 stop gained C/A;T snv 2.6E-04; 2.0E-05 3
rs138815960
ZMYND10
0.925 0.160 3 50345533 splice donor variant A/C snv 2.7E-04 2.1E-04 3
rs142371860
DRC1
0.925 0.160 2 26421396 stop gained C/A;T snv 3.9E-04 3
rs143740376
CFAP298-TCP10L ; CFAP298
0.925 0.160 21 32609853 stop gained G/A snv 7.6E-05 8.4E-05 3
rs145457535
CCDC103 ; FAM187A
0.827 0.160 17 44902549 missense variant A/C snv 1.2E-03 1.3E-03 3
rs147718607
CCDC114
0.925 0.160 19 48303953 missense variant C/T snv 2.4E-04 2.2E-04 3
rs151107532
RSPH1
0.925 0.160 21 42486463 splice acceptor variant T/G snv 3.7E-04 4.7E-04 3
rs200913791
RASSF1 ; ZMYND10
0.925 0.160 3 50342473 missense variant A/G snv 2.0E-04 3.5E-05 3
rs202094637
CFAP298-TCP10L ; CFAP298
0.925 0.160 21 32602299 stop gained G/A;C snv 4.0E-06; 8.0E-05 3
rs267607227
DNAAF1
0.925 0.160 16 84154748 missense variant T/C;G snv 3
rs387907021
DNAL1
0.925 0.160 14 73689432 missense variant A/G snv 3
rs387907152
DNAAF3
0.925 0.160 19 55165427 stop gained G/A snv 7.0E-06 3
rs397515340
MRPS18A ; RSPH9
0.925 0.160 6 43670918 inframe insertion GAA/-;GAAGAA delins 4.2E-05 3
rs587777498
CCNO
0.925 0.160 5 55233272 frameshift variant CAGGG/-;CAGGGCAGGG delins 3
rs587777499
CCNO
0.925 0.160 5 55233261 frameshift variant -/CGGGC;CGGGCCGGGC delins 3
rs587777502
CCNO
0.925 0.160 5 55233256 frameshift variant -/TGGGC delins 4.9E-06; 1.3E-04; 4.9E-06; 2.0E-05 3
rs771663107
DNAH5
0.882 0.160 5 13865675 stop gained G/A snv 7.0E-06 3
rs863223325
CCDC65
0.925 0.160 12 48918751 frameshift variant AT/- delins 3
rs869320683
RSPH4A
0.925 0.160 6 116623002 splice region variant AAGT/- delins 2.7E-04 3
rs200382776
RSPH1
1.000 0.160 21 42477286 splice region variant C/T snv 2.6E-04 6.6E-05 2
rs200488444
DNAI1
1.000 0.160 9 34490011 splice acceptor variant G/C snv 4.1E-04 4.5E-04 2
rs200669099
DNAI1
1.000 0.160 9 34514468 stop gained G/A snv 3.6E-05 5.6E-05 2
rs376252276
DNAI1
1.000 0.160 9 34513112 missense variant G/A;C;T snv 7.6E-05; 4.0E-06; 4.0E-06 2
rs397515363
FAM219A ; DNAI1
1.000 0.160 9 34459054 splice donor variant -/T delins 2
rs397515563
DNAI1
1.000 0.160 9 34517468 splice donor variant G/A snv 4.0E-06 2