Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1349668884
LOC101930593 ; DNAAF3 ; TNNI3
1.000 0.160 19 55159416 frameshift variant -/T delins 2
rs1569163423
OFD1
1.000 0.160 X 13767272 frameshift variant -/T delins 2
rs397515363
FAM219A ; DNAI1
1.000 0.160 9 34459054 splice donor variant -/T delins 2
rs397515425
LRRC6
1.000 8 132632816 frameshift variant -/T delins 4.0E-06 2
rs1060501861
RSPH1
21 42486448 frameshift variant -/T delins 4.0E-06 2.8E-05 1
rs1553804209
CCDC39
3 180648215 frameshift variant -/T delins 1
rs1554020233
DNAH5
5 13717420 frameshift variant -/T delins 1
rs1554072027
DNAH5
5 13839356 frameshift variant -/T delins 1
rs1554101045
DNAH5
5 13913761 frameshift variant -/T delins 1
rs556286752
RSPH1
21 42477337 frameshift variant -/T delins 2.1E-05 1
rs749082955
DNAH5
5 13794031 frameshift variant -/T delins 1
rs752925056
DNAH5
5 13841051 frameshift variant -/T delins 6.0E-05 4.9E-05 1
rs762081081
DNAH5
5 13876788 frameshift variant -/T delins 1
rs770372463
DNAH8
6 38803225 frameshift variant -/T delins 1.2E-05 1
rs878854458
DNAH5
5 13824269 frameshift variant -/T delins 1.4E-05 1
rs878855042
CCDC40
17 80095281 frameshift variant -/T delins 1
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
rs1060501460
DNAH5
1.000 0.160 5 13776447 frameshift variant A/- delins 1.2E-05 2
rs397515540
DNAH5
1.000 0.160 5 13753290 frameshift variant A/- del 1.6E-04 2.1E-04 2
rs1561241156
DNAH5
5 13780916 frameshift variant A/- del 1
rs1561836628
DNAH8
6 38899805 frameshift variant A/- delins 1
rs1562684798
DNAH11
7 21591469 frameshift variant A/- del 1
rs754698253
DNAH5
5 13867922 frameshift variant A/- del 2.8E-05 1
rs758650222
DNAAF1
16 84155723 frameshift variant A/- del 7.0E-06 1
rs762843285
DNAAF1
16 84165931 frameshift variant A/- del 1.6E-05 1.4E-05 1