Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553804100
CCDC39
3 180647254 intron variant T/C snv 1
rs577069249
CCDC39
3 180650140 intron variant T/C snv 5.0E-04 1
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs138320978
RSPH1
0.925 0.160 21 42493049 stop gained C/A;T snv 2.6E-04; 2.0E-05 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
rs202094637
CFAP298-TCP10L ; CFAP298
0.925 0.160 21 32602299 stop gained G/A;C snv 4.0E-06; 8.0E-05 3
rs387907152
DNAAF3
0.925 0.160 19 55165427 stop gained G/A snv 7.0E-06 3
rs771663107
DNAH5
0.882 0.160 5 13865675 stop gained G/A snv 7.0E-06 3
rs1060501464
DNAH5
1.000 0.160 5 13735167 stop gained G/A snv 4.0E-06 2
rs118204041
RSPH4A
1.000 0.120 6 116617083 stop gained C/T snv 2.0E-05 2
rs118204042
RSPH4A
1.000 0.120 6 116616948 stop gained C/T snv 8.0E-06 1.4E-05 2
rs118204043
RSPH4A
1.000 0.120 6 116628175 stop gained C/T snv 8.0E-06 2.1E-05 2
rs121908854
DNAH11
1.000 7 21748602 stop gained C/A;G;T snv 1.2E-03; 4.7E-06 2
rs121908855
DNAH11
1.000 0.160 7 21880869 stop gained C/G snv 6.1E-05 2.8E-05 2
rs1273352530
DNAH5
1.000 0.160 5 13830621 stop gained G/A snv 2
rs141945265
LRRC6
1.000 8 132632819 stop gained G/A;C snv 1.2E-05; 1.5E-03 2
rs1569164733
OFD1
1.000 0.160 X 13768093 stop gained G/T snv 2
rs1569164829
OFD1
1.000 0.160 X 13768111 stop gained G/T snv 2
rs200669099
DNAI1
1.000 0.160 9 34514468 stop gained G/A snv 3.6E-05 5.6E-05 2
rs200901816
DNAH5
1.000 0.160 5 13701289 stop gained G/A snv 6.0E-05 6.3E-05 2
rs267607225
DNAAF1
1.000 0.120 16 84159744 stop gained C/T snv 1.6E-05 2
rs368260932
DNAH11
1.000 0.160 7 21749702 stop gained C/T snv 4.4E-05 7.7E-05 2
rs372118787
DNAH5
1.000 0.160 5 13717403 stop gained C/T snv 1.6E-05 2.1E-05 2