Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs121908854
DNAH11
1.000 7 21748602 stop gained C/A;G;T snv 1.2E-03; 4.7E-06 2
rs141945265
LRRC6
1.000 8 132632819 stop gained G/A;C snv 1.2E-05; 1.5E-03 2
rs200321595
LRRC6
1.000 8 132632957 missense variant C/G snv 1.6E-04 1.0E-04 2
rs201133219
CCDC114
1.000 19 48297995 splice region variant C/T snv 8.0E-05 7.0E-05 2
rs375053470
DNAH5
5 13794031 stop gained G/A snv 1.6E-05; 4.0E-06 1.4E-05 2
rs397514561
DNAAF5
1.000 7 780097 missense variant T/C snv 2
rs397514596
LRRC6
1.000 8 132656866 missense variant C/G snv 2.7E-05 7.0E-06 2
rs397515424
LRRC6
1.000 8 132632794 frameshift variant TT/- del 2.0E-05 7.0E-06 2
rs397515425
LRRC6
1.000 8 132632816 frameshift variant -/T delins 4.0E-06 2
rs397515621
DNAAF4 ; DNAAF4-CCPG1
1.000 15 55439557 stop gained G/A;C snv 1.2E-05 2
rs587777635
RSPH1
1.000 21 42486455 stop gained C/T snv 2
rs781469274
DNAH5
5 13792128 stop gained G/A snv 3.2E-05 7.0E-06 2
rs876657637
DNAL1
1.000 14 73671556 frameshift variant TATCTTT/- delins 1.4E-05 2
rs879253744
ARMC4
1.000 10 27935009 splice donor variant C/T snv 4.0E-06 2
rs1007345781
TTC14 ; CCDC39
3 180616604 frameshift variant GT/- delins 8.7E-06 2.8E-05 1
rs1034327724
RSPH4A
6 116628160 stop gained C/T snv 8.0E-06 2.1E-05 1
rs1060500990
CCDC114
19 48303645 splice region variant C/T snv 1.4E-05 1
rs1060501181
RPGR
X 38297332 stop gained G/A snv 1
rs1060501454
DNAH5
5 13780960 splice acceptor variant C/A;G;T snv 4.0E-06; 4.0E-06 1
rs1060501455
DNAH5
5 13788898 stop gained C/T snv 1
rs1060501456
DNAH5
5 13721014 stop gained G/A snv 7.0E-06 1
rs1060501457
DNAH5
5 13829680 frameshift variant CC/T delins 1
rs1060501458
DNAH5
5 13891020 stop gained G/A snv 7.0E-06 1
rs1060501459
DNAH5
5 13793713 frameshift variant -/AT delins 4.0E-06 1