Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs387907092
CCDC40
1.000 0.120 17 80082020 stop gained C/A;T snv 4.0E-06 2
rs397514561
DNAAF5
1.000 7 780097 missense variant T/C snv 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
rs397515563
DNAI1
1.000 0.160 9 34517468 splice donor variant G/A snv 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
rs587778819
CCDC40
1.000 0.160 17 80089876 frameshift variant -/CTGT;TGT ins 3.6E-05 2
rs62638634
RPGR
0.925 0.080 X 38322921 missense variant C/A snv 2
rs672601333
DNAH5
1.000 0.160 5 13894819 frameshift variant -/A delins 2
rs752924362
DNAI2
1.000 0.160 17 74309345 stop gained G/A;C snv 1.6E-04; 4.0E-06 2
rs775720394
DNAH11
1.000 0.160 7 21899355 stop gained C/A;T snv 1.6E-05; 1.2E-05 2
rs786205052
DNAAF1
1.000 0.120 16 84154730 frameshift variant -/G delins 2
rs879253744
ARMC4
1.000 10 27935009 splice donor variant C/T snv 4.0E-06 2
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
rs1060501457
DNAH5
5 13829680 frameshift variant CC/T delins 1
rs1060501459
DNAH5
5 13793713 frameshift variant -/AT delins 4.0E-06 1
rs1060501466
DNAH5
5 13867773 splice donor variant C/A snv 1
rs1060501467
DNAH5
5 13708130 stop gained C/A;T snv 1
rs1060501719
CCDC40
17 80087748 frameshift variant CA/ACCG delins 1
rs1060502202
DNAI2
17 74301057 stop gained G/A snv 1
rs1060502829
DNAAF1
16 84149072 stop gained C/T snv 1