Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777060
rs587777060
1.000 21 42486428 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24
0.800 1.000 2 2013 2014
dbSNP: rs138320978
rs138320978
0.925 0.160 21 42493049 stop gained C/A;T snv 2.6E-04; 2.0E-05
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24
0.700 0
dbSNP: rs144037391
rs144037391
1.000 21 42486421 stop gained G/A;C snv 9.1E-05 3.4E-04
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24
0.700 0
dbSNP: rs151107532
rs151107532
0.925 0.160 21 42486463 splice acceptor variant T/G snv 3.7E-04 4.7E-04
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24
0.700 0
dbSNP: rs587777058
rs587777058
0.925 0.160 21 42485807 splice region variant G/T snv
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24
0.700 0
dbSNP: rs587777059
rs587777059
0.925 0.160 21 42485760 frameshift variant TACT/- delins 8.0E-06
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24
0.700 0
dbSNP: rs587777635
rs587777635
1.000 21 42486455 stop gained C/T snv
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24
0.700 0