Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs142371860
rs142371860
0.925 0.160 2 26421396 stop gained C/A;T snv 3.9E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 1 2013 2013
dbSNP: rs146412095
rs146412095
2 26450086 splice donor variant G/A;T snv 8.1E-05; 4.1E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 1 2013 2013
dbSNP: rs745800344
rs745800344
2 26444221 splice acceptor variant G/T snv 8.0E-06 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs770861172
rs770861172
0.827 0.160 2 195857582 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs756235547
rs756235547
3 180659582 splice acceptor variant T/C snv 1.2E-04 8.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 4 2011 2013
dbSNP: rs397515392
rs397515392
1.000 0.120 3 180661860 splice donor variant C/G snv 1.6E-04 7.0E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2011 2013
dbSNP: rs587778822
rs587778822
1.000 0.120 3 180651496 frameshift variant T/- delins 1.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2011 2014
dbSNP: rs1297857806
rs1297857806
3 50342917 splice donor variant C/T snv 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2013 2013
dbSNP: rs138815960
rs138815960
0.925 0.160 3 50345533 splice donor variant A/C snv 2.7E-04 2.1E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2013 2013
dbSNP: rs1560079213
rs1560079213
3 180616697 splice acceptor variant T/- del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2011 2013
dbSNP: rs201780665
rs201780665
3 180642072 stop gained G/A;T snv 7.6E-05; 8.1E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2013 2014
dbSNP: rs587778820
rs587778820
1.000 0.120 3 180619334 frameshift variant T/- delins 2.6E-05 1.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2011 2016
dbSNP: rs753580394
rs753580394
3 180644119 splice donor variant C/T snv 6.8E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2011 2013
dbSNP: rs773801386
rs773801386
1.000 0.120 3 180654861 frameshift variant GT/- delins 4.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 1990 2013
dbSNP: rs1007345781
rs1007345781
3 180616604 frameshift variant GT/- delins 8.7E-06 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 1 2013 2013
dbSNP: rs200913791
rs200913791
0.925 0.160 3 50342473 missense variant A/G snv 2.0E-04 3.5E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 1 2013 2013
dbSNP: rs577069249
rs577069249
3 180650140 intron variant T/C snv 5.0E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 1 2011 2011
dbSNP: rs587621539
rs587621539
1.000 3 50345495 missense variant A/G snv 2.2E-05 9.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 1 2013 2013
dbSNP: rs1210953680
rs1210953680
3 180652161 splice donor variant A/T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1275367324
rs1275367324
3 180651409 frameshift variant C/- del 5.9E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1285431486
rs1285431486
3 180642111 frameshift variant C/- del 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1415346246
rs1415346246
3 180659577 splice acceptor variant AACT/- delins 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1553800956
rs1553800956
3 180616551 stop gained C/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1553803540
rs1553803540
3 180641992 splice donor variant C/T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1553804100
rs1553804100
3 180647254 intron variant T/C snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0